Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia
We report a 20-year-old Faroese female with early-onset progressive gait problems, weakness, dysphagia, slurred speech, orthostatic dizziness, and urge incontinence. Neurological examination revealed mild cognitive deficits, dysarthria, broken slow pursuit, hypometric saccades, weakness with spasticity, hyperreflexia, absent ankle reflexes, ataxia, and wide-based, spastic gait. Magnetic resonance imaging displayed atrophy of the cerebellum, brainstem, and spinal cord. Severely prolonged central motor conduction time and lower motor neuron involvement was demonstrated electrophysiologically. Fluorodeoxyglucose-positron emis...
Source: Cerebellum - July 28, 2021 Category: Neuroscience Authors: William Kristian Karlsson Joan Lilja Sunnleyg H øjgaard Anna Vilhelmsen Clarissa Crone Birgit Andersen Ian Law Lisbeth Birk M øller Troels Tolstrup Nielsen Emilie Neerup Nielsen Thomas Krag Kirsten Svenstrup J ørgen Erik Nielsen Source Type: research

Cognitive Decline Is Closely Associated with Ataxia Severity in Spinocerebellar Ataxia Type 2: a Validation Study of the Schmahmann Syndrome Scale
The objective of this study is to determine the usefulness of the CCAS-S in a Cuban cohort of SCA2 patients and the relationship of its scores with disease severity. The original scale underwent a forward and backward translation into Spanish language, followed by a pilot study to evaluate its comprehensibility. Reliability, discriminant, and convergent validity assessments were conducted in 64 SCA2 patients and 64 healthy controls matched for sex, age, and education. Fifty patients completed the Montreal Cognitive Assessment (MoCA) test. The CCAS-S showed an acceptable internal consistency (Cronbach's alpha = 0.74) while ...
Source: Cerebellum - July 27, 2021 Category: Neuroscience Authors: Roberto Rodr íguez-Labrada Alejandro Batista-Izquierdo Zuleyra Gonz ález-Melix Lorenzo Reynado-Cejas Yaime é Vázquez-Mojena Yuri Arsenio Sanz Nalia Canales-Ochoa Yanetza Gonz ález-Zaldívar Imis Dogan Kathrin Reetz Luis Vel ázquez-Pérez Source Type: research

White Matter Microstructural Properties of the Cerebellar Peduncles Predict Change in Symptoms of Psychopathology in Adolescent Girls
Cerebellum. 2021 Jul 26. doi: 10.1007/s12311-021-01307-x. Online ahead of print.ABSTRACTInternalizing symptoms typically emerge in adolescence and are more prevalent in females than in males; in contrast, externalizing symptoms typically emerge in childhood and are more commonly observed in males. Previous research has implicated aspects of white matter organization, including fractional anisotropy (FA), of cerebral tracts in both internalizing and externalizing symptoms. Although the cerebellum has been posited to integrate limbic and cortical regions, its role in psychopathology is not well understood. In this longitudin...
Source: Cerebellum - July 26, 2021 Category: Neuroscience Authors: Lauren R Borchers Lisa Bruckert Rajpreet Chahal Dana Mastrovito Tiffany C Ho Ian H Gotlib Source Type: research

White Matter Microstructural Properties of the Cerebellar Peduncles Predict Change in Symptoms of Psychopathology in Adolescent Girls
Cerebellum. 2021 Jul 26. doi: 10.1007/s12311-021-01307-x. Online ahead of print.ABSTRACTInternalizing symptoms typically emerge in adolescence and are more prevalent in females than in males; in contrast, externalizing symptoms typically emerge in childhood and are more commonly observed in males. Previous research has implicated aspects of white matter organization, including fractional anisotropy (FA), of cerebral tracts in both internalizing and externalizing symptoms. Although the cerebellum has been posited to integrate limbic and cortical regions, its role in psychopathology is not well understood. In this longitudin...
Source: Cerebellum - July 26, 2021 Category: Neuroscience Authors: Lauren R Borchers Lisa Bruckert Rajpreet Chahal Dana Mastrovito Tiffany C Ho Ian H Gotlib Source Type: research

Free-Living Motor Activity Monitoring in Ataxia-Telangiectasia
In this study, we test the hypothesis that metrics derived from a single wrist sensor worn at home provide accurate, reliable, and interpretable information about neurological disease severity in children with A-T.A total of 15 children with A-T and 15 age- and sex-matched controls wore a sensor with a triaxial accelerometer on their dominant wrist for 1 week at home. Activity intensity measures, derived from the sensor data, were compared with in-person neurological evaluation on the Brief Ataxia Rating Scale (BARS) and performance on a validated computer mouse task.Children with A-T were inactive the same proportion of e...
Source: Cerebellum - July 24, 2021 Category: Neuroscience Authors: Nergis C Khan Vineet Pandey Krzysztof Z Gajos Anoopum S Gupta Source Type: research

Free-Living Motor Activity Monitoring in Ataxia-Telangiectasia
In this study, we test the hypothesis that metrics derived from a single wrist sensor worn at home provide accurate, reliable, and interpretable information about neurological disease severity in children with A-T.A total of 15 children with A-T and 15 age- and sex-matched controls wore a sensor with a triaxial accelerometer on their dominant wrist for 1 week at home. Activity intensity measures, derived from the sensor data, were compared with in-person neurological evaluation on the Brief Ataxia Rating Scale (BARS) and performance on a validated computer mouse task.Children with A-T were inactive the same proportion of e...
Source: Cerebellum - July 24, 2021 Category: Neuroscience Authors: Nergis C Khan Vineet Pandey Krzysztof Z Gajos Anoopum S Gupta Source Type: research

Free-Living Motor Activity Monitoring in Ataxia-Telangiectasia
In this study, we test the hypothesis that metrics derived from a single wrist sensor worn at home provide accurate, reliable, and interpretable information about neurological disease severity in children with A-T.A total of 15 children with A-T and 15 age- and sex-matched controls wore a sensor with a triaxial accelerometer on their dominant wrist for 1 week at home. Activity intensity measures, derived from the sensor data, were compared with in-person neurological evaluation on the Brief Ataxia Rating Scale (BARS) and performance on a validated computer mouse task.Children with A-T were inactive the same proportion of e...
Source: Cerebellum - July 24, 2021 Category: Neuroscience Authors: Nergis C Khan Vineet Pandey Krzysztof Z Gajos Anoopum S Gupta Source Type: research

New Horizons on Non-invasive Brain Stimulation of the Social and Affective Cerebellum
Cerebellum. 2021 Jul 16. doi: 10.1007/s12311-021-01300-4. Online ahead of print.ABSTRACTThe cerebellum is increasingly attracting scientists interested in basic and clinical research of neuromodulation. Here, we review available studies that used either transcranial magnetic stimulation (TMS) or transcranial direct current stimulation (tDCS) to examine the role of the posterior cerebellum in different aspects of social and affective cognition, from mood regulation to emotion discrimination, and from the ability to identify biological motion to higher-level social inferences (mentalizing). We discuss how at the functional l...
Source: Cerebellum - July 16, 2021 Category: Neuroscience Authors: Z Cattaneo C Ferrari A Ciricugno E Heleven D J L G Schutter M Manto F Van Overwalle Source Type: research

New Horizons on Non-invasive Brain Stimulation of the Social and Affective Cerebellum
Cerebellum. 2021 Jul 16. doi: 10.1007/s12311-021-01300-4. Online ahead of print.ABSTRACTThe cerebellum is increasingly attracting scientists interested in basic and clinical research of neuromodulation. Here, we review available studies that used either transcranial magnetic stimulation (TMS) or transcranial direct current stimulation (tDCS) to examine the role of the posterior cerebellum in different aspects of social and affective cognition, from mood regulation to emotion discrimination, and from the ability to identify biological motion to higher-level social inferences (mentalizing). We discuss how at the functional l...
Source: Cerebellum - July 16, 2021 Category: Neuroscience Authors: Z Cattaneo C Ferrari A Ciricugno E Heleven D J L G Schutter M Manto F Van Overwalle Source Type: research

New Horizons on Non-invasive Brain Stimulation of the Social and Affective Cerebellum
Cerebellum. 2021 Jul 16. doi: 10.1007/s12311-021-01300-4. Online ahead of print.ABSTRACTThe cerebellum is increasingly attracting scientists interested in basic and clinical research of neuromodulation. Here, we review available studies that used either transcranial magnetic stimulation (TMS) or transcranial direct current stimulation (tDCS) to examine the role of the posterior cerebellum in different aspects of social and affective cognition, from mood regulation to emotion discrimination, and from the ability to identify biological motion to higher-level social inferences (mentalizing). We discuss how at the functional l...
Source: Cerebellum - July 16, 2021 Category: Neuroscience Authors: Z Cattaneo C Ferrari A Ciricugno E Heleven D J L G Schutter M Manto F Van Overwalle Source Type: research

New Horizons on Non-invasive Brain Stimulation of the Social and Affective Cerebellum
Cerebellum. 2021 Jul 16. doi: 10.1007/s12311-021-01300-4. Online ahead of print.ABSTRACTThe cerebellum is increasingly attracting scientists interested in basic and clinical research of neuromodulation. Here, we review available studies that used either transcranial magnetic stimulation (TMS) or transcranial direct current stimulation (tDCS) to examine the role of the posterior cerebellum in different aspects of social and affective cognition, from mood regulation to emotion discrimination, and from the ability to identify biological motion to higher-level social inferences (mentalizing). We discuss how at the functional l...
Source: Cerebellum - July 16, 2021 Category: Neuroscience Authors: Z Cattaneo C Ferrari A Ciricugno E Heleven D J L G Schutter M Manto F Van Overwalle Source Type: research

New Horizons on Non-invasive Brain Stimulation of the Social and Affective Cerebellum
Cerebellum. 2021 Jul 16. doi: 10.1007/s12311-021-01300-4. Online ahead of print.ABSTRACTThe cerebellum is increasingly attracting scientists interested in basic and clinical research of neuromodulation. Here, we review available studies that used either transcranial magnetic stimulation (TMS) or transcranial direct current stimulation (tDCS) to examine the role of the posterior cerebellum in different aspects of social and affective cognition, from mood regulation to emotion discrimination, and from the ability to identify biological motion to higher-level social inferences (mentalizing). We discuss how at the functional l...
Source: Cerebellum - July 16, 2021 Category: Neuroscience Authors: Z Cattaneo C Ferrari A Ciricugno E Heleven D J L G Schutter M Manto F Van Overwalle Source Type: research

New Horizons on Non-invasive Brain Stimulation of the Social and Affective Cerebellum
Cerebellum. 2021 Jul 16. doi: 10.1007/s12311-021-01300-4. Online ahead of print.ABSTRACTThe cerebellum is increasingly attracting scientists interested in basic and clinical research of neuromodulation. Here, we review available studies that used either transcranial magnetic stimulation (TMS) or transcranial direct current stimulation (tDCS) to examine the role of the posterior cerebellum in different aspects of social and affective cognition, from mood regulation to emotion discrimination, and from the ability to identify biological motion to higher-level social inferences (mentalizing). We discuss how at the functional l...
Source: Cerebellum - July 16, 2021 Category: Neuroscience Authors: Z Cattaneo C Ferrari A Ciricugno E Heleven D J L G Schutter M Manto F Van Overwalle Source Type: research

Identification of the Largest SCA36 Pedigree in Asia: with Multimodel Neuroimaging Evaluation for the First Time
Cerebellum. 2021 Jul 15. doi: 10.1007/s12311-021-01304-0. Online ahead of print.ABSTRACTSpinocerebellar ataxias (SCAs) are a large group of hereditary neurodegenerative diseases characterized by ataxia and dysarthria. Due to high clinical and genetic heterogeneity, many SCA families are undiagnosed. Herein, using linkage analysis, WES, and RP-PCR, we identified the largest SCA36 pedigree in Asia. This pedigree showed some distinct clinical characteristics. Cognitive impairment and gaze palsy are common and severe in SCA36 patients, especially long-course patients. Although no patients complained of hearing loss, most of th...
Source: Cerebellum - July 15, 2021 Category: Neuroscience Authors: Yue Xie Zhao Chen Zhe Long Rui-Ting Chen Yi-Zheng Jiang Ming-Jie Liu Lin-Liu Peng Hui-Rong Peng Na Wan Guangdong Zou Chun-Rong Wang Yu-Ting Shi Gao-Feng Zhou Wei-Hua Liao Rong Qiu Zheng-Mao Hu Kun Xia Bei-Sha Tang Hong Jiang Source Type: research

Identification of the Largest SCA36 Pedigree in Asia: with Multimodel Neuroimaging Evaluation for the First Time
Cerebellum. 2021 Jul 15. doi: 10.1007/s12311-021-01304-0. Online ahead of print.ABSTRACTSpinocerebellar ataxias (SCAs) are a large group of hereditary neurodegenerative diseases characterized by ataxia and dysarthria. Due to high clinical and genetic heterogeneity, many SCA families are undiagnosed. Herein, using linkage analysis, WES, and RP-PCR, we identified the largest SCA36 pedigree in Asia. This pedigree showed some distinct clinical characteristics. Cognitive impairment and gaze palsy are common and severe in SCA36 patients, especially long-course patients. Although no patients complained of hearing loss, most of th...
Source: Cerebellum - July 15, 2021 Category: Neuroscience Authors: Yue Xie Zhao Chen Zhe Long Rui-Ting Chen Yi-Zheng Jiang Ming-Jie Liu Lin-Liu Peng Hui-Rong Peng Na Wan Guangdong Zou Chun-Rong Wang Yu-Ting Shi Gao-Feng Zhou Wei-Hua Liao Rong Qiu Zheng-Mao Hu Kun Xia Bei-Sha Tang Hong Jiang Source Type: research

Progression of Functional Gait in Hereditary Spastic Paraplegias
Cerebellum. 2021 Jul 9. doi: 10.1007/s12311-021-01302-2. Online ahead of print.ABSTRACTHereditary spastic paraplegias (HSP) are characterized by progressive deterioration of axonal projections of upper motor neurons leading to abnormal locomotion. The clinical course of HSP as well as the definition of the best instruments to assess its progression is largely unknown. The aim of this study was to investigate the progression of functional gait in individuals with HSP and to define sensitivity to change, minimal clinically important difference (MCID), and validity of timed functional tests of gait (TFT). The study was consti...
Source: Cerebellum - July 10, 2021 Category: Neuroscience Authors: Diana Maria Cubillos-Arcila Gustavo Dariva Machado Lauren Sehnem Daniela Burgu êz Ana Paula Janner Zanardi Val éria Feijó Martins Leonardo Alexandre Peyr é-Tartaruga Jonas Alex Morales Saute Source Type: research

Progression of Functional Gait in Hereditary Spastic Paraplegias
Cerebellum. 2021 Jul 9. doi: 10.1007/s12311-021-01302-2. Online ahead of print.ABSTRACTHereditary spastic paraplegias (HSP) are characterized by progressive deterioration of axonal projections of upper motor neurons leading to abnormal locomotion. The clinical course of HSP as well as the definition of the best instruments to assess its progression is largely unknown. The aim of this study was to investigate the progression of functional gait in individuals with HSP and to define sensitivity to change, minimal clinically important difference (MCID), and validity of timed functional tests of gait (TFT). The study was consti...
Source: Cerebellum - July 10, 2021 Category: Neuroscience Authors: Diana Maria Cubillos-Arcila Gustavo Dariva Machado Lauren Sehnem Daniela Burgu êz Ana Paula Janner Zanardi Val éria Feijó Martins Leonardo Alexandre Peyr é-Tartaruga Jonas Alex Morales Saute Source Type: research

Progression of Functional Gait in Hereditary Spastic Paraplegias
Cerebellum. 2021 Jul 9. doi: 10.1007/s12311-021-01302-2. Online ahead of print.ABSTRACTHereditary spastic paraplegias (HSP) are characterized by progressive deterioration of axonal projections of upper motor neurons leading to abnormal locomotion. The clinical course of HSP as well as the definition of the best instruments to assess its progression is largely unknown. The aim of this study was to investigate the progression of functional gait in individuals with HSP and to define sensitivity to change, minimal clinically important difference (MCID), and validity of timed functional tests of gait (TFT). The study was consti...
Source: Cerebellum - July 10, 2021 Category: Neuroscience Authors: Diana Maria Cubillos-Arcila Gustavo Dariva Machado Lauren Sehnem Daniela Burgu êz Ana Paula Janner Zanardi Val éria Feijó Martins Leonardo Alexandre Peyr é-Tartaruga Jonas Alex Morales Saute Source Type: research

Progression of Functional Gait in Hereditary Spastic Paraplegias
Cerebellum. 2021 Jul 9. doi: 10.1007/s12311-021-01302-2. Online ahead of print.ABSTRACTHereditary spastic paraplegias (HSP) are characterized by progressive deterioration of axonal projections of upper motor neurons leading to abnormal locomotion. The clinical course of HSP as well as the definition of the best instruments to assess its progression is largely unknown. The aim of this study was to investigate the progression of functional gait in individuals with HSP and to define sensitivity to change, minimal clinically important difference (MCID), and validity of timed functional tests of gait (TFT). The study was consti...
Source: Cerebellum - July 10, 2021 Category: Neuroscience Authors: Diana Maria Cubillos-Arcila Gustavo Dariva Machado Lauren Sehnem Daniela Burgu êz Ana Paula Janner Zanardi Val éria Feijó Martins Leonardo Alexandre Peyr é-Tartaruga Jonas Alex Morales Saute Source Type: research

Quality of Life since Pre-Ataxic Phases of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease
This study describes the HRQoL results obtained from ataxic SCA3/MJD subjects, and their non-ataxic offspring included in the BIGPRO (Biomarkers and genetic modifiers in a study of presymptomatic and symptomatic SCA3/MJD carriers) study. Demographic data, clinical scales, and HRQoL instruments EQ-5D-3L and SF-36 were collected. Subjects at 50% risk were genotyped in a double-blind manner. The time left until the onset of the disease was estimated for mutation carriers with a SARA
Source: Cerebellum - July 7, 2021 Category: Neuroscience Authors: Gabriela Bolzan Vanessa Bielefeldt Leotti Camila Maria de Oliveira Gabriela Ecco Amanda Henz Cappelli Anastacia Guimar ães Rocha Nathalia Kersting Mariana Rieck Lucas Schenatto de Sena Ana Carolina Martins Maria-Luiza Saraiva-Pereira Laura Bannach Jardim Source Type: research

Neurocognitive Changes in Spinocerebellar Ataxia Type 3: A Systematic Review with a Narrative Design
Cerebellum. 2021 Jul 7. doi: 10.1007/s12311-021-01282-3. Online ahead of print.ABSTRACTSpinocerebellar ataxia type 3 (SCA3), the commonest dominantly inherited ataxia worldwide, is characterized by disruption in the cerebellar-cerebral and striatal-cortical networks. Findings on SCA3-associated cognitive impairments are mixed. The classification models, tests and scoring systems used, language, culture, ataxia severity, and depressive symptoms are all potential confounders in neuropsychological assessments and may have contributed to the heterogeneity of the neurocognitive profile of SCA3. We conducted a systematic review ...
Source: Cerebellum - July 7, 2021 Category: Neuroscience Authors: Kah Hui Yap Roy P C Kessels Shahrul Azmin Bart van de Warrenburg Norlinah Mohamed Ibrahim Source Type: research

Long-Term Application of Cerebellar Transcranial Direct Current Stimulation Does Not Improve Motor Learning in Parkinson's Disease
Cerebellum. 2021 Jul 7:1-17. doi: 10.1007/s12311-021-01297-w. Online ahead of print.ABSTRACTCerebellar transcranial direct current stimulation (c-tDCS) enhances motor skill acquisition and motor learning in young and old adults. Since the cerebellum is involved in the pathophysiology of Parkinson's disease (PD), c-tDCS may represent an intervention with potential to improve motor learning in PD. The primary purpose was to determine the influence of long-term application of c-tDCS on motor learning in PD. The secondary purpose was to examine the influence of long-term application of c-tDCS on transfer of motor learning in P...
Source: Cerebellum - July 7, 2021 Category: Neuroscience Authors: Lidio Lima de Albuquerque Milan Pantovic Mitchell G Clingo Katherine M Fischer Sharon Jalene Merrill R Landers Zoltan Mari Brach Poston Source Type: research

Quality of Life since Pre-Ataxic Phases of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease
This study describes the HRQoL results obtained from ataxic SCA3/MJD subjects, and their non-ataxic offspring included in the BIGPRO (Biomarkers and genetic modifiers in a study of presymptomatic and symptomatic SCA3/MJD carriers) study. Demographic data, clinical scales, and HRQoL instruments EQ-5D-3L and SF-36 were collected. Subjects at 50% risk were genotyped in a double-blind manner. The time left until the onset of the disease was estimated for mutation carriers with a SARA
Source: Cerebellum - July 7, 2021 Category: Neuroscience Authors: Gabriela Bolzan Vanessa Bielefeldt Leotti Camila Maria de Oliveira Gabriela Ecco Amanda Henz Cappelli Anastacia Guimar ães Rocha Nathalia Kersting Mariana Rieck Lucas Schenatto de Sena Ana Carolina Martins Maria-Luiza Saraiva-Pereira Laura Bannach Jardim Source Type: research

Neurocognitive Changes in Spinocerebellar Ataxia Type 3: A Systematic Review with a Narrative Design
Cerebellum. 2021 Jul 7. doi: 10.1007/s12311-021-01282-3. Online ahead of print.ABSTRACTSpinocerebellar ataxia type 3 (SCA3), the commonest dominantly inherited ataxia worldwide, is characterized by disruption in the cerebellar-cerebral and striatal-cortical networks. Findings on SCA3-associated cognitive impairments are mixed. The classification models, tests and scoring systems used, language, culture, ataxia severity, and depressive symptoms are all potential confounders in neuropsychological assessments and may have contributed to the heterogeneity of the neurocognitive profile of SCA3. We conducted a systematic review ...
Source: Cerebellum - July 7, 2021 Category: Neuroscience Authors: Kah Hui Yap Roy P C Kessels Shahrul Azmin Bart van de Warrenburg Norlinah Mohamed Ibrahim Source Type: research

Long-Term Application of Cerebellar Transcranial Direct Current Stimulation Does Not Improve Motor Learning in Parkinson's Disease
Cerebellum. 2021 Jul 7:1-17. doi: 10.1007/s12311-021-01297-w. Online ahead of print.ABSTRACTCerebellar transcranial direct current stimulation (c-tDCS) enhances motor skill acquisition and motor learning in young and old adults. Since the cerebellum is involved in the pathophysiology of Parkinson's disease (PD), c-tDCS may represent an intervention with potential to improve motor learning in PD. The primary purpose was to determine the influence of long-term application of c-tDCS on motor learning in PD. The secondary purpose was to examine the influence of long-term application of c-tDCS on transfer of motor learning in P...
Source: Cerebellum - July 7, 2021 Category: Neuroscience Authors: Lidio Lima de Albuquerque Milan Pantovic Mitchell G Clingo Katherine M Fischer Sharon Jalene Merrill R Landers Zoltan Mari Brach Poston Source Type: research

Quality of Life since Pre-Ataxic Phases of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease
This study describes the HRQoL results obtained from ataxic SCA3/MJD subjects, and their non-ataxic offspring included in the BIGPRO (Biomarkers and genetic modifiers in a study of presymptomatic and symptomatic SCA3/MJD carriers) study. Demographic data, clinical scales, and HRQoL instruments EQ-5D-3L and SF-36 were collected. Subjects at 50% risk were genotyped in a double-blind manner. The time left until the onset of the disease was estimated for mutation carriers with a SARA
Source: Cerebellum - July 7, 2021 Category: Neuroscience Authors: Gabriela Bolzan Vanessa Bielefeldt Leotti Camila Maria de Oliveira Gabriela Ecco Amanda Henz Cappelli Anastacia Guimar ães Rocha Nathalia Kersting Mariana Rieck Lucas Schenatto de Sena Ana Carolina Martins Maria-Luiza Saraiva-Pereira Laura Bannach Jardim Source Type: research

Neurocognitive Changes in Spinocerebellar Ataxia Type 3: A Systematic Review with a Narrative Design
Cerebellum. 2021 Jul 7. doi: 10.1007/s12311-021-01282-3. Online ahead of print.ABSTRACTSpinocerebellar ataxia type 3 (SCA3), the commonest dominantly inherited ataxia worldwide, is characterized by disruption in the cerebellar-cerebral and striatal-cortical networks. Findings on SCA3-associated cognitive impairments are mixed. The classification models, tests and scoring systems used, language, culture, ataxia severity, and depressive symptoms are all potential confounders in neuropsychological assessments and may have contributed to the heterogeneity of the neurocognitive profile of SCA3. We conducted a systematic review ...
Source: Cerebellum - July 7, 2021 Category: Neuroscience Authors: Kah Hui Yap Roy P C Kessels Shahrul Azmin Bart van de Warrenburg Norlinah Mohamed Ibrahim Source Type: research

Long-Term Application of Cerebellar Transcranial Direct Current Stimulation Does Not Improve Motor Learning in Parkinson's Disease
Cerebellum. 2021 Jul 7:1-17. doi: 10.1007/s12311-021-01297-w. Online ahead of print.ABSTRACTCerebellar transcranial direct current stimulation (c-tDCS) enhances motor skill acquisition and motor learning in young and old adults. Since the cerebellum is involved in the pathophysiology of Parkinson's disease (PD), c-tDCS may represent an intervention with potential to improve motor learning in PD. The primary purpose was to determine the influence of long-term application of c-tDCS on motor learning in PD. The secondary purpose was to examine the influence of long-term application of c-tDCS on transfer of motor learning in P...
Source: Cerebellum - July 7, 2021 Category: Neuroscience Authors: Lidio Lima de Albuquerque Milan Pantovic Mitchell G Clingo Katherine M Fischer Sharon Jalene Merrill R Landers Zoltan Mari Brach Poston Source Type: research

Quality of Life since Pre-Ataxic Phases of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease
This study describes the HRQoL results obtained from ataxic SCA3/MJD subjects, and their non-ataxic offspring included in the BIGPRO (Biomarkers and genetic modifiers in a study of presymptomatic and symptomatic SCA3/MJD carriers) study. Demographic data, clinical scales, and HRQoL instruments EQ-5D-3L and SF-36 were collected. Subjects at 50% risk were genotyped in a double-blind manner. The time left until the onset of the disease was estimated for mutation carriers with a SARA
Source: Cerebellum - July 7, 2021 Category: Neuroscience Authors: Gabriela Bolzan Vanessa Bielefeldt Leotti Camila Maria de Oliveira Gabriela Ecco Amanda Henz Cappelli Anastacia Guimar ães Rocha Nathalia Kersting Mariana Rieck Lucas Schenatto de Sena Ana Carolina Martins Maria-Luiza Saraiva-Pereira Laura Bannach Jardim Source Type: research

Neurocognitive Changes in Spinocerebellar Ataxia Type 3: A Systematic Review with a Narrative Design
Cerebellum. 2021 Jul 7. doi: 10.1007/s12311-021-01282-3. Online ahead of print.ABSTRACTSpinocerebellar ataxia type 3 (SCA3), the commonest dominantly inherited ataxia worldwide, is characterized by disruption in the cerebellar-cerebral and striatal-cortical networks. Findings on SCA3-associated cognitive impairments are mixed. The classification models, tests and scoring systems used, language, culture, ataxia severity, and depressive symptoms are all potential confounders in neuropsychological assessments and may have contributed to the heterogeneity of the neurocognitive profile of SCA3. We conducted a systematic review ...
Source: Cerebellum - July 7, 2021 Category: Neuroscience Authors: Kah Hui Yap Roy P C Kessels Shahrul Azmin Bart van de Warrenburg Norlinah Mohamed Ibrahim Source Type: research

The Cost of Living with Inherited Ataxia in Ireland
Cerebellum. 2021 Jul 6. doi: 10.1007/s12311-021-01271-6. Online ahead of print.ABSTRACTInherited ataxias are a heterogenous group of neurodegenerative disorders characterised by progressive impairment of balance and coordination, typically leading to permanent and progressive disability. Diagnosis and management of these disorders incurs a range of direct and indirect financial costs. The aim of this study was to collect individual ataxia-related healthcare resources in a large cohort of individuals with different subtypes of inherited ataxia and calculate the associated cost of illness in the Republic of Ireland. One hund...
Source: Cerebellum - July 6, 2021 Category: Neuroscience Authors: Mark J Kelly Petya Bogdanova-Mihaylova Joshua Skeens Sharon Moran Sorcha Farrelly Richard A Walsh Sin éad M Murphy Source Type: research

PD-1-inhibitor-induced PCA-2 (MAP1B) Autoimmunity in a Patient with Renal Cell Carcinoma
We report a patient who developed a subacute cerebellar syndrome shortly after starting treatment with nivolumab, a PD-1 inhibitor, for renal clear cell carcinoma, with detectable paraneoplastic PCA-2 antibodies. The tumor specimen stained positively for MAP1B, the antigen of PCA-2. The patient responded well to treatment with glucocorticosteroids. This is the first case to our knowledge of PCA-2 paraneoplastic cerebellar degeneration associated with ICI use, which presents in a patient with a malignancy not typically associated with neurological paraneoplastic phenomena. Treatment with immune checkpoint inhibitors (ICIs) ...
Source: Cerebellum - June 27, 2021 Category: Neuroscience Authors: Yahel Segal Felix Bukstein Michal Raz Orna Aizenstein Yifat Alcalay Avi Gadoth Source Type: research

PD-1-inhibitor-induced PCA-2 (MAP1B) Autoimmunity in a Patient with Renal Cell Carcinoma
We report a patient who developed a subacute cerebellar syndrome shortly after starting treatment with nivolumab, a PD-1 inhibitor, for renal clear cell carcinoma, with detectable paraneoplastic PCA-2 antibodies. The tumor specimen stained positively for MAP1B, the antigen of PCA-2. The patient responded well to treatment with glucocorticosteroids. This is the first case to our knowledge of PCA-2 paraneoplastic cerebellar degeneration associated with ICI use, which presents in a patient with a malignancy not typically associated with neurological paraneoplastic phenomena. Treatment with immune checkpoint inhibitors (ICIs) ...
Source: Cerebellum - June 27, 2021 Category: Neuroscience Authors: Yahel Segal Felix Bukstein Michal Raz Orna Aizenstein Yifat Alcalay Avi Gadoth Source Type: research

PD-1-inhibitor-induced PCA-2 (MAP1B) Autoimmunity in a Patient with Renal Cell Carcinoma
We report a patient who developed a subacute cerebellar syndrome shortly after starting treatment with nivolumab, a PD-1 inhibitor, for renal clear cell carcinoma, with detectable paraneoplastic PCA-2 antibodies. The tumor specimen stained positively for MAP1B, the antigen of PCA-2. The patient responded well to treatment with glucocorticosteroids. This is the first case to our knowledge of PCA-2 paraneoplastic cerebellar degeneration associated with ICI use, which presents in a patient with a malignancy not typically associated with neurological paraneoplastic phenomena. Treatment with immune checkpoint inhibitors (ICIs) ...
Source: Cerebellum - June 27, 2021 Category: Neuroscience Authors: Yahel Segal Felix Bukstein Michal Raz Orna Aizenstein Yifat Alcalay Avi Gadoth Source Type: research

PD-1-inhibitor-induced PCA-2 (MAP1B) Autoimmunity in a Patient with Renal Cell Carcinoma
We report a patient who developed a subacute cerebellar syndrome shortly after starting treatment with nivolumab, a PD-1 inhibitor, for renal clear cell carcinoma, with detectable paraneoplastic PCA-2 antibodies. The tumor specimen stained positively for MAP1B, the antigen of PCA-2. The patient responded well to treatment with glucocorticosteroids. This is the first case to our knowledge of PCA-2 paraneoplastic cerebellar degeneration associated with ICI use, which presents in a patient with a malignancy not typically associated with neurological paraneoplastic phenomena. Treatment with immune checkpoint inhibitors (ICIs) ...
Source: Cerebellum - June 27, 2021 Category: Neuroscience Authors: Yahel Segal Felix Bukstein Michal Raz Orna Aizenstein Yifat Alcalay Avi Gadoth Source Type: research

PD-1-inhibitor-induced PCA-2 (MAP1B) Autoimmunity in a Patient with Renal Cell Carcinoma
We report a patient who developed a subacute cerebellar syndrome shortly after starting treatment with nivolumab, a PD-1 inhibitor, for renal clear cell carcinoma, with detectable paraneoplastic PCA-2 antibodies. The tumor specimen stained positively for MAP1B, the antigen of PCA-2. The patient responded well to treatment with glucocorticosteroids. This is the first case to our knowledge of PCA-2 paraneoplastic cerebellar degeneration associated with ICI use, which presents in a patient with a malignancy not typically associated with neurological paraneoplastic phenomena. Treatment with immune checkpoint inhibitors (ICIs) ...
Source: Cerebellum - June 27, 2021 Category: Neuroscience Authors: Yahel Segal Felix Bukstein Michal Raz Orna Aizenstein Yifat Alcalay Avi Gadoth Source Type: research

PD-1-inhibitor-induced PCA-2 (MAP1B) Autoimmunity in a Patient with Renal Cell Carcinoma
We report a patient who developed a subacute cerebellar syndrome shortly after starting treatment with nivolumab, a PD-1 inhibitor, for renal clear cell carcinoma, with detectable paraneoplastic PCA-2 antibodies. The tumor specimen stained positively for MAP1B, the antigen of PCA-2. The patient responded well to treatment with glucocorticosteroids. This is the first case to our knowledge of PCA-2 paraneoplastic cerebellar degeneration associated with ICI use, which presents in a patient with a malignancy not typically associated with neurological paraneoplastic phenomena. Treatment with immune checkpoint inhibitors (ICIs) ...
Source: Cerebellum - June 27, 2021 Category: Neuroscience Authors: Yahel Segal Felix Bukstein Michal Raz Orna Aizenstein Yifat Alcalay Avi Gadoth Source Type: research

PD-1-inhibitor-induced PCA-2 (MAP1B) Autoimmunity in a Patient with Renal Cell Carcinoma
We report a patient who developed a subacute cerebellar syndrome shortly after starting treatment with nivolumab, a PD-1 inhibitor, for renal clear cell carcinoma, with detectable paraneoplastic PCA-2 antibodies. The tumor specimen stained positively for MAP1B, the antigen of PCA-2. The patient responded well to treatment with glucocorticosteroids. This is the first case to our knowledge of PCA-2 paraneoplastic cerebellar degeneration associated with ICI use, which presents in a patient with a malignancy not typically associated with neurological paraneoplastic phenomena. Treatment with immune checkpoint inhibitors (ICIs) ...
Source: Cerebellum - June 27, 2021 Category: Neuroscience Authors: Yahel Segal Felix Bukstein Michal Raz Orna Aizenstein Yifat Alcalay Avi Gadoth Source Type: research

Dance Improves Motor, Cognitive, and Social Skills in Children With Developmental Cerebellar Anomalies
Cerebellum. 2021 Jun 24. doi: 10.1007/s12311-021-01291-2. Online ahead of print.ABSTRACTIn this multiple single-cases study, we used dance to train sensorimotor synchronization (SMS), motor, and cognitive functions in children with developmental cerebellar anomalies (DCA). DCA are rare dysfunctions of the cerebellum that affect motor and cognitive skills. The cerebellum plays an important role in temporal cognition, including SMS, which is critical for motor and cognitive development. Dancing engages the SMS neuronal circuitry, composed of the cerebellum, the basal ganglia, and the motor cortices. Thus, we hypothesized tha...
Source: Cerebellum - June 25, 2021 Category: Neuroscience Authors: Valentin B égel Asaf Bachrach Simone Dalla Bella Julien Laroche Sylvain Cl ément Audrey Riquet Delphine Dellacherie Source Type: research

Dance Improves Motor, Cognitive, and Social Skills in Children With Developmental Cerebellar Anomalies
Cerebellum. 2021 Jun 24. doi: 10.1007/s12311-021-01291-2. Online ahead of print.ABSTRACTIn this multiple single-cases study, we used dance to train sensorimotor synchronization (SMS), motor, and cognitive functions in children with developmental cerebellar anomalies (DCA). DCA are rare dysfunctions of the cerebellum that affect motor and cognitive skills. The cerebellum plays an important role in temporal cognition, including SMS, which is critical for motor and cognitive development. Dancing engages the SMS neuronal circuitry, composed of the cerebellum, the basal ganglia, and the motor cortices. Thus, we hypothesized tha...
Source: Cerebellum - June 25, 2021 Category: Neuroscience Authors: Valentin B égel Asaf Bachrach Simone Dalla Bella Julien Laroche Sylvain Cl ément Audrey Riquet Delphine Dellacherie Source Type: research

Dance Improves Motor, Cognitive, and Social Skills in Children With Developmental Cerebellar Anomalies
Cerebellum. 2021 Jun 24. doi: 10.1007/s12311-021-01291-2. Online ahead of print.ABSTRACTIn this multiple single-cases study, we used dance to train sensorimotor synchronization (SMS), motor, and cognitive functions in children with developmental cerebellar anomalies (DCA). DCA are rare dysfunctions of the cerebellum that affect motor and cognitive skills. The cerebellum plays an important role in temporal cognition, including SMS, which is critical for motor and cognitive development. Dancing engages the SMS neuronal circuitry, composed of the cerebellum, the basal ganglia, and the motor cortices. Thus, we hypothesized tha...
Source: Cerebellum - June 25, 2021 Category: Neuroscience Authors: Valentin B égel Asaf Bachrach Simone Dalla Bella Julien Laroche Sylvain Cl ément Audrey Riquet Delphine Dellacherie Source Type: research

Deep Cerebellar Nuclei Functional Connectivity with Cerebral Cortex in Temporal Lobe Epilepsy With and Without Focal to Bilateral Tonic-Clonic Seizures: a Resting-State fMRI Study
Cerebellum. 2021 Jun 23. doi: 10.1007/s12311-021-01266-3. Online ahead of print.ABSTRACTWe aimed to explore the altered functional connectivity patterns within cerebello-cerebral circuits in temporal lobe epilepsy (TLE) patients with and without focal to bilateral tonic-clonic seizures (FBTCS). Forty-two patients with unilateral TLE (21 with and 21 without FBTCS) and 22 healthy controls were recruited. We chose deep cerebellar nuclei as seed regions, calculated static and dynamic functional connectivity (sFC and dFC) in the patients with and without FBTCS and healthy controls, and compared sFC and dFC among the three group...
Source: Cerebellum - June 24, 2021 Category: Neuroscience Authors: Liluo Nie Yanchun Jiang Zongxia Lv Xiaomin Pang Xiulin Liang Weiwei Chang Jian Li Jinou Zheng Source Type: research

Deep Cerebellar Nuclei Functional Connectivity with Cerebral Cortex in Temporal Lobe Epilepsy With and Without Focal to Bilateral Tonic-Clonic Seizures: a Resting-State fMRI Study
Cerebellum. 2021 Jun 23. doi: 10.1007/s12311-021-01266-3. Online ahead of print.ABSTRACTWe aimed to explore the altered functional connectivity patterns within cerebello-cerebral circuits in temporal lobe epilepsy (TLE) patients with and without focal to bilateral tonic-clonic seizures (FBTCS). Forty-two patients with unilateral TLE (21 with and 21 without FBTCS) and 22 healthy controls were recruited. We chose deep cerebellar nuclei as seed regions, calculated static and dynamic functional connectivity (sFC and dFC) in the patients with and without FBTCS and healthy controls, and compared sFC and dFC among the three group...
Source: Cerebellum - June 24, 2021 Category: Neuroscience Authors: Liluo Nie Yanchun Jiang Zongxia Lv Xiaomin Pang Xiulin Liang Weiwei Chang Jian Li Jinou Zheng Source Type: research

Anodal Transcranial Direct Current Stimulation over the Cerebellum Enhances Sadness Recognition in Parkinson's Disease Patients: a Pilot Study
In this study, we aimed to evaluate whether the recognition of facial expressions can be modulated by cerebellar transcranial direct current stimulation (tDCS) in PD patients. Nine PD patients were enrolled and received anodal and sham tDCS (2 mA, 20 min), for 5 consecutive days, in two separate cycles at intervals of at least 1 month. The facial emotion recognition task was administered at baseline (T0) and after cerebellar tDCS on day 5 (T1). Our preliminary study showed that anodal cerebellar tDCS significantly enhanced emotional recognition in response to sad facial expressions by about 16%, but left recognition of ang...
Source: Cerebellum - June 23, 2021 Category: Neuroscience Authors: Fabiana Ruggiero Michelangelo Dini Francesca Cortese Maurizio Vergari Martina Nigro Barbara Poletti Alberto Priori Roberta Ferrucci Source Type: research

Can Dyssynergia of Vestibulosympathetic and Baroreflexes Cause Vestibular Syncope? The Hypothesis Based on the Velocity-Storage Function
This study aims to clarify the mechanism of vestibular syncope by pursuing the function of vestibular system in cardiovascular autonomic control and by defining neuro-hemodynamic changes in vestibular syncope. By integrating the velocity-storage (VS) circuit in the brainstem and cerebellum, we propose that the vestibular syncope develops as a result of dyssynergia of the vestibulosympathetic and baroreflexes in which centrally estimated downward inertial acceleration during the vertigo attacks acts as a trigger. Recognition of the vestibular disorders as a possible cause of syncope would allow proper managements for preven...
Source: Cerebellum - June 22, 2021 Category: Neuroscience Authors: Eunjin Kwon Ju Young Lee Hyo-Jung Kim Jeong-Yoon Choi Ji-Soo Kim Source Type: research

Can Dyssynergia of Vestibulosympathetic and Baroreflexes Cause Vestibular Syncope? The Hypothesis Based on the Velocity-Storage Function
This study aims to clarify the mechanism of vestibular syncope by pursuing the function of vestibular system in cardiovascular autonomic control and by defining neuro-hemodynamic changes in vestibular syncope. By integrating the velocity-storage (VS) circuit in the brainstem and cerebellum, we propose that the vestibular syncope develops as a result of dyssynergia of the vestibulosympathetic and baroreflexes in which centrally estimated downward inertial acceleration during the vertigo attacks acts as a trigger. Recognition of the vestibular disorders as a possible cause of syncope would allow proper managements for preven...
Source: Cerebellum - June 22, 2021 Category: Neuroscience Authors: Eunjin Kwon Ju Young Lee Hyo-Jung Kim Jeong-Yoon Choi Ji-Soo Kim Source Type: research

Exploring Subcellular Cerebellar Fractions with the Electron Microscope
Cerebellum. 2021 Jun 21. doi: 10.1007/s12311-021-01286-z. Online ahead of print.ABSTRACTDifferential ultracentrifugation and subcellular fractionation historically helped to study the components of the cell, to discover new cellular organelles, and to decipher their morphological and molecular properties. In neuroscience, the technique has yielded important results on neuron biochemistry and the mechanisms of synaptic transmission. This Cerebellar Classic is devoted to the pioneering work of Manuel del Cerro, Ray S. Snider, and Mary Lou Oster-Granite, who isolated purified fractions after successive centrifugations of the ...
Source: Cerebellum - June 21, 2021 Category: Neuroscience Authors: Lazaros C Triarhou Mario Manto Source Type: research

Commentary on "Subcellular Fractions of Adult and Developing Rat Cerebellum, by M. del Cerro, R. S. Snider and M. L. Oster, July 1969"
Cerebellum. 2021 Jun 21. doi: 10.1007/s12311-021-01287-y. Online ahead of print.ABSTRACTSubcellular fractionation by differential ultracentrifugation has allowed the study of the cell and its organelles from a morphological, physiological, and biochemical perspective. Combined with electron microscopy, and by using animals at different stages of postnatal development, these methods yielded useful results concerning the ontogeny of synaptosomes, mitochondria, and myelin and broadened the possibilities to investigate the molecular underpinnings of cerebellar histogenesis.PMID:34152548 | DOI:10.1007/s12311-021-01287-y (Source: Cerebellum)
Source: Cerebellum - June 21, 2021 Category: Neuroscience Authors: Manuel Del Cerro Source Type: research

Exploring Subcellular Cerebellar Fractions with the Electron Microscope
Cerebellum. 2021 Jun 21. doi: 10.1007/s12311-021-01286-z. Online ahead of print.ABSTRACTDifferential ultracentrifugation and subcellular fractionation historically helped to study the components of the cell, to discover new cellular organelles, and to decipher their morphological and molecular properties. In neuroscience, the technique has yielded important results on neuron biochemistry and the mechanisms of synaptic transmission. This Cerebellar Classic is devoted to the pioneering work of Manuel del Cerro, Ray S. Snider, and Mary Lou Oster-Granite, who isolated purified fractions after successive centrifugations of the ...
Source: Cerebellum - June 21, 2021 Category: Neuroscience Authors: Lazaros C Triarhou Mario Manto Source Type: research

Commentary on "Subcellular Fractions of Adult and Developing Rat Cerebellum, by M. del Cerro, R. S. Snider and M. L. Oster, July 1969"
Cerebellum. 2021 Jun 21. doi: 10.1007/s12311-021-01287-y. Online ahead of print.ABSTRACTSubcellular fractionation by differential ultracentrifugation has allowed the study of the cell and its organelles from a morphological, physiological, and biochemical perspective. Combined with electron microscopy, and by using animals at different stages of postnatal development, these methods yielded useful results concerning the ontogeny of synaptosomes, mitochondria, and myelin and broadened the possibilities to investigate the molecular underpinnings of cerebellar histogenesis.PMID:34152548 | DOI:10.1007/s12311-021-01287-y (Source: Cerebellum)
Source: Cerebellum - June 21, 2021 Category: Neuroscience Authors: Manuel Del Cerro Source Type: research