Structural Brain Correlates of Sleep Microstructure in Spinocerebellar Ataxia Type 2 and its Role on Clinical Phenotype
The objective of the study is to explore the relationship between sleep microstructure and brain atrophy in SCA2 and its role in the clinical phenotype. Fourteen SCA2 mutation carriers (7 pre-manifest and 7 manifest subjects) underwent polysomnographic, structural MRI, and clinical assessments. Particularly, markers of REM and non-REM sleep microstructure, measures of cerebellar and brainstem atrophy, and clinical scores were analyzed through correlation and mediation analyses. The sleep spindle activity exhibited a negative correlation with the number of trials required to complete the verbal memory test (VMT), and a posi...
Source: Cerebellum - March 4, 2024 Category: Neuroscience Authors: Roberto Rodr íguez-Labrada Nalia Canales-Ochoa Maria de Lourdes Galicia-Polo Edilia Cruz-Rivas Sandro Romanzetti Arnoy Pe ña-Acosta Anneli é Estupiñán-Rodríguez Yaime é Vázquez-Mojena Imis Dogan Georg Auburger Kathrin Reetz Luis Vel ázquez-Pérez Source Type: research
Disentangling Cerebellar and Parietal Contributions to Gait and Body Schema: A Repetitive Transcranial Magnetic Stimulation Study
This study aimed to identify distinguishing motor and cognitive features to disentangle PPC and cerebellar involvement in two sensorimotor-related functions: gait and body schema representation. Thirty healthy volunteers were enrolled and randomly assigned to PPC or cerebellar stimulation. Sham stimulation and 1 Hz-repetitive-Transcranial-Magnetic-Stimulation were delivered over P3 or cerebellum before a balance and a walking distance estimation task. Each trial was repeated with eyes open (EO) and closed (EC). Eight inertial measurement units recorded spatiotemporal and kinematic variables of gait. Instability increased i...
Source: Cerebellum - March 4, 2024 Category: Neuroscience Authors: Margherita Bertuccelli Patrizia Bisiacchi Alessandra Del Felice Source Type: research
CHARON: An Imaging-Based Diagnostic Algorithm to Navigate Through the Sea of Hereditary Degenerative Ataxias
Cerebellum. 2024 Mar 4. doi: 10.1007/s12311-024-01677-y. Online ahead of print.ABSTRACTThe complexity in diagnosing hereditary degenerative ataxias lies not only in their rarity, but also in the variety of different genetic conditions that can determine sometimes similar and overlapping clinical findings. In this light, Magnetic Resonance Imaging (MRI) plays a key role in the evaluation of these conditions, being a fundamental diagnostic tool needed not only to exclude other causes determining the observed clinical phenotype, but also to proper guide to an adequate genetic testing. Here, we propose an MRI-based diagnostic ...
Source: Cerebellum - March 4, 2024 Category: Neuroscience Authors: Alessandra Scaravilli Mario Tranfa Giuseppe Pontillo Bernard Brais Giovanna De Michele Roberta La Piana Francesco Sacc à Filippo Maria Santorelli Matthis Synofzik Arturo Brunetti Sirio Cocozza Source Type: research
Quantification of Solid Embryonic Cerebellar Graft Volume in a Degenerative Ataxia Model
In this study, we examined the volume and structure of solid embryonic cerebellar grafts in adult Lurcher mice, a model of olivocerebellar degeneration, and their healthy littermates. Grafts taken from enhanced green fluorescent protein (EGFP)-positive embryos were injected into the cerebellum of host mice. Two or six months later, the brains were examined histologically. The grafts were identified according to the EGFP fluorescence in frozen sections and their volumes were estimated using the Cavalieri principle. For gross histological evaluation, graft-containing slices were processed using Nissl and hematoxylin-eosin st...
Source: Cerebellum - March 2, 2024 Category: Neuroscience Authors: Zdenka Purkartova Kristyna Krakorova Vaclav Babuska Jan Tuma Zbyn ěk Houdek Nilpawan Roy Choudhury Stepan Kapl Yaroslav Kolinko Martina Sucha Elena Porras-Garcia Milena Kralickova Jan Cendelin Source Type: research
Quantification of Solid Embryonic Cerebellar Graft Volume in a Degenerative Ataxia Model
In this study, we examined the volume and structure of solid embryonic cerebellar grafts in adult Lurcher mice, a model of olivocerebellar degeneration, and their healthy littermates. Grafts taken from enhanced green fluorescent protein (EGFP)-positive embryos were injected into the cerebellum of host mice. Two or six months later, the brains were examined histologically. The grafts were identified according to the EGFP fluorescence in frozen sections and their volumes were estimated using the Cavalieri principle. For gross histological evaluation, graft-containing slices were processed using Nissl and hematoxylin-eosin st...
Source: Cerebellum - March 2, 2024 Category: Neuroscience Authors: Zdenka Purkartova Kristyna Krakorova Vaclav Babuska Jan Tuma Zbyn ěk Houdek Nilpawan Roy Choudhury Stepan Kapl Yaroslav Kolinko Martina Sucha Elena Porras-Garcia Milena Kralickova Jan Cendelin Source Type: research
Mitochondrial Dysfunction due to Novel COQ8A Variation with Poor Response to CoQ10 Treatment: A Comprehensive Study and Review of Literatures
Cerebellum. 2024 Mar 2. doi: 10.1007/s12311-024-01671-4. Online ahead of print.ABSTRACTCOQ8A plays an important role in the biosynthesis of coenzyme Q10 (CoQ10), and variations in COQ8A gene are associated with primary CoQ10 deficiency-4 (COQ10D4), also known as COQ8A-ataxia. The current understanding of the association between the specific variant type, the severity of CoQ10 deficiency, and the degree of oxidative stress in individuals with primary CoQ10 deficiencies remains uncertain. Here we provide a comprehensive analysis of the clinical and genetic characteristics of an 18-year-old patient with COQ8A-ataxia, who exhi...
Source: Cerebellum - March 1, 2024 Category: Neuroscience Authors: Jiayin Wang Yan Lin Zhihong Xu Chuanzhu Yan Yuying Zhao Kunqian Ji Source Type: research
Case Report: An Adult Case of Poretti-Boltshauser Syndrome Diagnosed by Medical Checkup
This report describes an adult case of Poretti-Boltshauser syndrome (PTBHS) and with novel variants of LAMA1. A 65-year-old Japanese woman with cerebellar malformation identified during a medical checkup was referred to our hospital. Subsequently, neurological examination, brain imaging, and genetic investigation via whole-exome sequencing were performed. The patient presented with mild cerebellar ataxia and intellectual disability. Magnetic resonance imaging revealed cerebellar dysplasia and cysts and an absence of molar tooth sign. Genetic analysis revealed a novel homozygous variant of c.1711_1712del in LAMA1 (NM_005559...
Source: Cerebellum - February 29, 2024 Category: Neuroscience Authors: Kensuke Ikeda Ayane Tamagake Takafumi Kubota Rumiko Izumi Tatsuo Yamaguchi Kumiko Yanagi Tatsuro Misu Yoko Aoki Tadashi Kaname Masashi Aoki Source Type: research
Case Report: An Adult Case of Poretti-Boltshauser Syndrome Diagnosed by Medical Checkup
This report describes an adult case of Poretti-Boltshauser syndrome (PTBHS) and with novel variants of LAMA1. A 65-year-old Japanese woman with cerebellar malformation identified during a medical checkup was referred to our hospital. Subsequently, neurological examination, brain imaging, and genetic investigation via whole-exome sequencing were performed. The patient presented with mild cerebellar ataxia and intellectual disability. Magnetic resonance imaging revealed cerebellar dysplasia and cysts and an absence of molar tooth sign. Genetic analysis revealed a novel homozygous variant of c.1711_1712del in LAMA1 (NM_005559...
Source: Cerebellum - February 29, 2024 Category: Neuroscience Authors: Kensuke Ikeda Ayane Tamagake Takafumi Kubota Rumiko Izumi Tatsuo Yamaguchi Kumiko Yanagi Tatsuro Misu Yoko Aoki Tadashi Kaname Masashi Aoki Source Type: research
Correction to: A Chinese Family with Digenic TBP/STUB1 Spinocerebellar Ataxia
Cerebellum. 2024 Feb 24. doi: 10.1007/s12311-024-01672-3. Online ahead of print.NO ABSTRACTPMID:38396270 | DOI:10.1007/s12311-024-01672-3 (Source: Cerebellum)
Source: Cerebellum - February 24, 2024 Category: Neuroscience Authors: Lili Liu Juanjuan Chen Guogao Zhang Zhijian Lin Di Chen Jun Hu Source Type: research
Correction to: A Chinese Family with Digenic TBP/STUB1 Spinocerebellar Ataxia
Cerebellum. 2024 Feb 24. doi: 10.1007/s12311-024-01672-3. Online ahead of print.NO ABSTRACTPMID:38396270 | DOI:10.1007/s12311-024-01672-3 (Source: Cerebellum)
Source: Cerebellum - February 24, 2024 Category: Neuroscience Authors: Lili Liu Juanjuan Chen Guogao Zhang Zhijian Lin Di Chen Jun Hu Source Type: research
Correction to: A Chinese Family with Digenic TBP/STUB1 Spinocerebellar Ataxia
Cerebellum. 2024 Feb 24. doi: 10.1007/s12311-024-01672-3. Online ahead of print.NO ABSTRACTPMID:38396270 | DOI:10.1007/s12311-024-01672-3 (Source: Cerebellum)
Source: Cerebellum - February 24, 2024 Category: Neuroscience Authors: Lili Liu Juanjuan Chen Guogao Zhang Zhijian Lin Di Chen Jun Hu Source Type: research
Correction to: A Chinese Family with Digenic TBP/STUB1 Spinocerebellar Ataxia
Cerebellum. 2024 Feb 24. doi: 10.1007/s12311-024-01672-3. Online ahead of print.NO ABSTRACTPMID:38396270 | DOI:10.1007/s12311-024-01672-3 (Source: Cerebellum)
Source: Cerebellum - February 24, 2024 Category: Neuroscience Authors: Lili Liu Juanjuan Chen Guogao Zhang Zhijian Lin Di Chen Jun Hu Source Type: research
Correction to: A Chinese Family with Digenic TBP/STUB1 Spinocerebellar Ataxia
Cerebellum. 2024 Feb 24. doi: 10.1007/s12311-024-01672-3. Online ahead of print.NO ABSTRACTPMID:38396270 | DOI:10.1007/s12311-024-01672-3 (Source: Cerebellum)
Source: Cerebellum - February 24, 2024 Category: Neuroscience Authors: Lili Liu Juanjuan Chen Guogao Zhang Zhijian Lin Di Chen Jun Hu Source Type: research
The Role of the Human Cerebellum for Learning from and Processing of External Feedback in Non-Motor Learning: A Systematic Review
Cerebellum. 2024 Feb 20. doi: 10.1007/s12311-024-01669-y. Online ahead of print.ABSTRACTThis review aimed to systematically identify and comprehensively review the role of the cerebellum in performance monitoring, focusing on learning from and on processing of external feedback in non-motor learning. While 1078 articles were screened for eligibility, ultimately 36 studies were included in which external feedback was delivered in cognitive tasks and which referenced the cerebellum. These included studies in patient populations with cerebellar damage and studies in healthy subjects applying neuroimaging. Learning performance...
Source: Cerebellum - February 21, 2024 Category: Neuroscience Authors: Adam M Berlijn Dana M Huvermann Sandra Schneider Christian Bellebaum Dagmar Timmann Martina Minnerop Jutta Peterburs Source Type: research
The Role of the Human Cerebellum for Learning from and Processing of External Feedback in Non-Motor Learning: A Systematic Review
Cerebellum. 2024 Feb 20. doi: 10.1007/s12311-024-01669-y. Online ahead of print.ABSTRACTThis review aimed to systematically identify and comprehensively review the role of the cerebellum in performance monitoring, focusing on learning from and on processing of external feedback in non-motor learning. While 1078 articles were screened for eligibility, ultimately 36 studies were included in which external feedback was delivered in cognitive tasks and which referenced the cerebellum. These included studies in patient populations with cerebellar damage and studies in healthy subjects applying neuroimaging. Learning performance...
Source: Cerebellum - February 21, 2024 Category: Neuroscience Authors: Adam M Berlijn Dana M Huvermann Sandra Schneider Christian Bellebaum Dagmar Timmann Martina Minnerop Jutta Peterburs Source Type: research
