Bilateral Cerebellar Repetitive Transcranial Magnetic Stimulation for Chronic Ataxia After Hemorrhagic Stroke: a Case Report
We present the case of a patient with chronic cerebellar ataxia following a hemorrhagic stroke who underwent inhibitory rTMS to bilateral cerebellar targets with demonstrated improvement in symptoms.PMID:37864649 | DOI:10.1007/s12311-023-01618-1 (Source: Cerebellum)
Source: Cerebellum - October 21, 2023 Category: Neuroscience Authors: Evan Hy Einstein Juliana Corlier Cole Matthews Doan Ngo Michael K Leuchter Cole Citrenbaum Nikita Vince-Cruz Bhavna Ramesh Aaron Slan Scott A Wilke Nathaniel Ginder Thomas Strouse Andrew F Leuchter Source Type: research
Bilateral Cerebellar Repetitive Transcranial Magnetic Stimulation for Chronic Ataxia After Hemorrhagic Stroke: a Case Report
We present the case of a patient with chronic cerebellar ataxia following a hemorrhagic stroke who underwent inhibitory rTMS to bilateral cerebellar targets with demonstrated improvement in symptoms.PMID:37864649 | DOI:10.1007/s12311-023-01618-1 (Source: Cerebellum)
Source: Cerebellum - October 21, 2023 Category: Neuroscience Authors: Evan Hy Einstein Juliana Corlier Cole Matthews Doan Ngo Michael K Leuchter Cole Citrenbaum Nikita Vince-Cruz Bhavna Ramesh Aaron Slan Scott A Wilke Nathaniel Ginder Thomas Strouse Andrew F Leuchter Source Type: research
COVID-19 Impacts the Mental Health and Speech Function in Spinocerebellar Ataxia Type 2: Evidences from a Follow-Up Study
The objective of this study is to assess the impact of COVID-19 on the mental health and motor features of SCA2. A follow-up study was carried out in 170 Cuban SCA2 subjects and 87 community controls between 2020 and 2021. All subjects underwent a structured questionnaire to assess the risks of exposure to COVID-19, the confirmation of COVID-19 diagnosis, and the Hospital Anxiety and Depression Scale (HADS). Moreover, 36 subjects underwent the Scale for the Assessment and Rating of ataxia (SARA). The risk of exposure to SARS-CoV-2 and the frequency of COVID-19 were similar between the ataxia cohort and the community contro...
Source: Cerebellum - October 20, 2023 Category: Neuroscience Authors: Luis Vel ázquez-Pérez Roberto Rodr íguez-Labrada Yasmany Gonzalez-Garc és Nalia Canales-Ochoa Jacqueline Medrano-Montero Yennis Dom ínguez-Barrios Frank J Carrillo-Rodes Mar ía B Ramírez-Bautista Alberto Caballero-Laguna Osiel G ámez-Rodríguez Ma Source Type: research
COVID-19 Impacts the Mental Health and Speech Function in Spinocerebellar Ataxia Type 2: Evidences from a Follow-Up Study
The objective of this study is to assess the impact of COVID-19 on the mental health and motor features of SCA2. A follow-up study was carried out in 170 Cuban SCA2 subjects and 87 community controls between 2020 and 2021. All subjects underwent a structured questionnaire to assess the risks of exposure to COVID-19, the confirmation of COVID-19 diagnosis, and the Hospital Anxiety and Depression Scale (HADS). Moreover, 36 subjects underwent the Scale for the Assessment and Rating of ataxia (SARA). The risk of exposure to SARS-CoV-2 and the frequency of COVID-19 were similar between the ataxia cohort and the community contro...
Source: Cerebellum - October 20, 2023 Category: Neuroscience Authors: Luis Vel ázquez-Pérez Roberto Rodr íguez-Labrada Yasmany Gonzalez-Garc és Nalia Canales-Ochoa Jacqueline Medrano-Montero Yennis Dom ínguez-Barrios Frank J Carrillo-Rodes Mar ía B Ramírez-Bautista Alberto Caballero-Laguna Osiel G ámez-Rodríguez Ma Source Type: research
Parkinsonism in SCA19/22: Dopamine Transporter Imaging in an Italian Family Harboring a Novel Mutation
Cerebellum. 2023 Oct 19. doi: 10.1007/s12311-023-01619-0. Online ahead of print.ABSTRACTSpinocerebellar ataxia (SCA)19/22 is a channelopathy caused by mutations in the KCND3 gene encoding for the voltage-gated potassium channel Kv4.3. In the present work, we report an Italian family harboring a novel KCND3 missense mutation characterized by ataxia and mild parkinsonism. Patients underwent dopamine transporter single-photon emission computed tomography to assess dopaminergic degeneration. Normal findings were observed, and treatment with levodopa did not yield any benefit, thus suggesting the involvement of other mechanisms...
Source: Cerebellum - October 19, 2023 Category: Neuroscience Authors: Elena Contaldi Silvia Gallo Lucia Corrado Sandra D'Alfonso Luca Magistrelli Source Type: research
A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11
Cerebellum. 2023 Oct 17. doi: 10.1007/s12311-023-01616-3. Online ahead of print.ABSTRACTSpinocerebellar ataxia type 11 (SCA11) is a rare disease and the tau tubulin kinase 2 (TTBK2) gene was the causative gene. To date, only six SCA11 families have been reported. Here, we reported a Chinese SCA11 pedigree with cerebellar ataxia. Both patients in the family demonstrated typical clinical features of cerebellar ataxia and cerebellar atrophy on brain MRI. A novel heterozygous duplication mutation (c.1211_1217dupAGGAGAA) of the TTBK2 gene was identified in the proband using whole-exome sequencing (WES), which resulted in a fram...
Source: Cerebellum - October 17, 2023 Category: Neuroscience Authors: Yin-Qian Lu Jian-Min Chen Ya-Li Huang Zhang-Yu Zou Source Type: research
A Case of Anti-Ma2 Encephalitis Presenting with Pendular Torsional Nystagmus
Cerebellum. 2023 Oct 18. doi: 10.1007/s12311-023-01601-w. Online ahead of print.ABSTRACTAntibodies against the neuronal protein Ma2 have been reported in a peculiar form of paraneoplastic encephalitis with prominent involvement of the limbic, brainstem, and diencephalic structures and usually associated with germ cell testicular, lung, or breast cancer. The diagnosis is frequently challenged by atypical clinical manifestations including parkinsonism, sleep disturbances, hypothalamic-pituitary dysfunctions, and motor neuron-like syndrome. In recent years, the advent of monoclonal antibodies targeting immune checkpoints has ...
Source: Cerebellum - October 17, 2023 Category: Neuroscience Authors: Gloria Vaghi Elisa Vegezzi Paola Bini Matteo Gastaldi Luca Diamanti Enrico Marchioni Silvia Colnaghi Source Type: research
A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11
Cerebellum. 2023 Oct 17. doi: 10.1007/s12311-023-01616-3. Online ahead of print.ABSTRACTSpinocerebellar ataxia type 11 (SCA11) is a rare disease and the tau tubulin kinase 2 (TTBK2) gene was the causative gene. To date, only six SCA11 families have been reported. Here, we reported a Chinese SCA11 pedigree with cerebellar ataxia. Both patients in the family demonstrated typical clinical features of cerebellar ataxia and cerebellar atrophy on brain MRI. A novel heterozygous duplication mutation (c.1211_1217dupAGGAGAA) of the TTBK2 gene was identified in the proband using whole-exome sequencing (WES), which resulted in a fram...
Source: Cerebellum - October 17, 2023 Category: Neuroscience Authors: Yin-Qian Lu Jian-Min Chen Ya-Li Huang Zhang-Yu Zou Source Type: research
A Case of Anti-Ma2 Encephalitis Presenting with Pendular Torsional Nystagmus
Cerebellum. 2023 Oct 18. doi: 10.1007/s12311-023-01601-w. Online ahead of print.ABSTRACTAntibodies against the neuronal protein Ma2 have been reported in a peculiar form of paraneoplastic encephalitis with prominent involvement of the limbic, brainstem, and diencephalic structures and usually associated with germ cell testicular, lung, or breast cancer. The diagnosis is frequently challenged by atypical clinical manifestations including parkinsonism, sleep disturbances, hypothalamic-pituitary dysfunctions, and motor neuron-like syndrome. In recent years, the advent of monoclonal antibodies targeting immune checkpoints has ...
Source: Cerebellum - October 17, 2023 Category: Neuroscience Authors: Gloria Vaghi Elisa Vegezzi Paola Bini Matteo Gastaldi Luca Diamanti Enrico Marchioni Silvia Colnaghi Source Type: research
A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11
Cerebellum. 2023 Oct 17. doi: 10.1007/s12311-023-01616-3. Online ahead of print.ABSTRACTSpinocerebellar ataxia type 11 (SCA11) is a rare disease and the tau tubulin kinase 2 (TTBK2) gene was the causative gene. To date, only six SCA11 families have been reported. Here, we reported a Chinese SCA11 pedigree with cerebellar ataxia. Both patients in the family demonstrated typical clinical features of cerebellar ataxia and cerebellar atrophy on brain MRI. A novel heterozygous duplication mutation (c.1211_1217dupAGGAGAA) of the TTBK2 gene was identified in the proband using whole-exome sequencing (WES), which resulted in a fram...
Source: Cerebellum - October 17, 2023 Category: Neuroscience Authors: Yin-Qian Lu Jian-Min Chen Ya-Li Huang Zhang-Yu Zou Source Type: research
A Case of Anti-Ma2 Encephalitis Presenting with Pendular Torsional Nystagmus
Cerebellum. 2023 Oct 18. doi: 10.1007/s12311-023-01601-w. Online ahead of print.ABSTRACTAntibodies against the neuronal protein Ma2 have been reported in a peculiar form of paraneoplastic encephalitis with prominent involvement of the limbic, brainstem, and diencephalic structures and usually associated with germ cell testicular, lung, or breast cancer. The diagnosis is frequently challenged by atypical clinical manifestations including parkinsonism, sleep disturbances, hypothalamic-pituitary dysfunctions, and motor neuron-like syndrome. In recent years, the advent of monoclonal antibodies targeting immune checkpoints has ...
Source: Cerebellum - October 17, 2023 Category: Neuroscience Authors: Gloria Vaghi Elisa Vegezzi Paola Bini Matteo Gastaldi Luca Diamanti Enrico Marchioni Silvia Colnaghi Source Type: research
Electrophysiological Activity from the Eye Muscles, Cerebellum and Cerebrum During Reflexive (Classical Pavlovian) Versus Voluntary (Ivanov-Smolensky) Eye-Blink Conditioning
We report an experiment to investigate the role of the cerebellum and cerebrum in motor learning of timed movements. Eleven healthy human subjects were recruited to perform two experiments, the first was a classical eye-blink conditioning procedure with an auditory tone as conditional stimulus (CS) and vestibular unconditional stimulus (US) in the form of a double head-tap. In the second experiment, subjects were asked to blink voluntarily in synchrony with the double head-tap US preceded by a CS, a form of Ivanov-Smolensky conditioning in which a command or instruction is associated with the US. Electrophysiological recor...
Source: Cerebellum - October 15, 2023 Category: Neuroscience Authors: Neil P M Todd Sendhil Govender Peter E Keller James G Colebatch Source Type: research
Electrophysiological Activity from the Eye Muscles, Cerebellum and Cerebrum During Reflexive (Classical Pavlovian) Versus Voluntary (Ivanov-Smolensky) Eye-Blink Conditioning
We report an experiment to investigate the role of the cerebellum and cerebrum in motor learning of timed movements. Eleven healthy human subjects were recruited to perform two experiments, the first was a classical eye-blink conditioning procedure with an auditory tone as conditional stimulus (CS) and vestibular unconditional stimulus (US) in the form of a double head-tap. In the second experiment, subjects were asked to blink voluntarily in synchrony with the double head-tap US preceded by a CS, a form of Ivanov-Smolensky conditioning in which a command or instruction is associated with the US. Electrophysiological recor...
Source: Cerebellum - October 15, 2023 Category: Neuroscience Authors: Neil P M Todd Sendhil Govender Peter E Keller James G Colebatch Source Type: research
Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1
Cerebellum. 2023 Oct 13. doi: 10.1007/s12311-023-01617-2. Online ahead of print.ABSTRACTAutosomal recessive spinocerebellar ataxia 13 (SCAR13) is a neurological disease characterized by psychomotor delay, mild to profound intellectual disability with poor or absent language, nystagmus, stance ataxia, and, if walking is acquired, gait ataxia. Epilepsy and polyneuropathy have also been documented in some patients. Cerebellar atrophy and/or ventriculomegaly may be present on brain MRI. SCAR13 is caused by pathogenic variants in the GRM1 gene encoding the metabotropic receptor of glutamate type 1 (mGlur1), which is highly expr...
Source: Cerebellum - October 13, 2023 Category: Neuroscience Authors: Carlo Alberto Cesaroni Giulia Pisan ò Gabriele Trimarchi Stefano Giuseppe Caraffi Giulia Scandolo Martina Gnazzo Daniele Frattini Carlotta Spagnoli Susanna Rizzi Claudia Dittadi Giulia Sigona Livia Garavelli Carlo Fusco Source Type: research
Convolutional Neural Network for Fully Automated Cerebellar Volumetry in Children in Comparison to Manual Segmentation and Developmental Trajectory of Cerebellar Volumes
Cerebellum. 2023 Oct 13. doi: 10.1007/s12311-023-01609-2. Online ahead of print.ABSTRACTThe purpose of this study was to develop a fully automated and reliable volumetry of the cerebellum of children during infancy and childhood using deep learning algorithms in comparison to manual segmentation. In addition, the clinical usefulness of measuring the cerebellar volume is shown. One hundred patients (0 to 16.3 years old) without infratentorial signal abnormalities on conventional MRI were retrospectively selected from our pool of pediatric MRI examinations. Based on a routinely acquired 3D T1-weighted magnetization prepared ...
Source: Cerebellum - October 13, 2023 Category: Neuroscience Authors: Daria Juliane Sobootian Paul Bronzlik Loukia M Spineli Lena Sophie Becker Hinrich Boy Winther Eva Bueltmann Source Type: research
