Decreased Synaptic Vesicle Glycoprotein 2A Binding in the Human Postmortem Essential Tremor Cerebellum: Evidence of Reduction in Synaptic Density
CONCLUSION: In this pilot study, using in vitro SV2A autoradiography, we have observed significantly lower synaptic density in the cerebellar cortex and dentate nucleus of ET cases. Future research could expand on our sample size and focus on in vivo imaging in ET to explore whether SV2A imaging could serve as a much-needed disease biomarker.PMID:37783917 | DOI:10.1007/s12311-023-01611-8 (Source: Cerebellum)
Source: Cerebellum - October 2, 2023 Category: Neuroscience Authors: Yanghong Yang Chao Zheng Baosheng Chen Nora C Hernandez Phyllis L Faust Zhengxin Cai Elan D Louis David Matuskey Source Type: research
Cognitive Complaints and Their Impact on Daily Life in Patients with Degenerative Cerebellar Disorders
This study aims to explore the extent of subjective cognitive and affective symptoms in patients with degenerative ataxias in the Netherlands. An explorative study was set up in a heterogeneous group of degenerative ataxia patients. Self-reported cognition was evaluated in terms of executive functioning and affect (Dysexecutive Questionnaire/DEX), and memory/attention (Cognitive Failures Questionnaire/CFQ). The Daily Living Questionnaire (DLQ) was administered to quantify the impact on daily life. Furthermore, informants completed questionnaires to obtain insight into patients' self-awareness and social cognition (Observab...
Source: Cerebellum - October 1, 2023 Category: Neuroscience Authors: Stacha F I Reumers Dennis J L G Schutter Roderick P P W M Maas Frank-Erik de Leeuw Roy P C Kessels Bart P C van de Warrenburg Source Type: research
Cognitive Complaints and Their Impact on Daily Life in Patients with Degenerative Cerebellar Disorders
This study aims to explore the extent of subjective cognitive and affective symptoms in patients with degenerative ataxias in the Netherlands. An explorative study was set up in a heterogeneous group of degenerative ataxia patients. Self-reported cognition was evaluated in terms of executive functioning and affect (Dysexecutive Questionnaire/DEX), and memory/attention (Cognitive Failures Questionnaire/CFQ). The Daily Living Questionnaire (DLQ) was administered to quantify the impact on daily life. Furthermore, informants completed questionnaires to obtain insight into patients' self-awareness and social cognition (Observab...
Source: Cerebellum - October 1, 2023 Category: Neuroscience Authors: Stacha F I Reumers Dennis J L G Schutter Roderick P P W M Maas Frank-Erik de Leeuw Roy P C Kessels Bart P C van de Warrenburg Source Type: research
ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein
This study provides a comprehensive literature review of the cases reported so far, thus expanding the understanding of the spectrum of presentation, and helps in correlating the clinical picture with the underlying causative genetic mutation. ARV1 gene is another example of one gene with phenotypic pleiotropy. Though presentation with DEE is common, a few, especially those with missense mutations, can present with ataxia and ocular abnormalities. All cases presenting with ataxia who have increased alpha-fetoprotein levels and seizures should be tested for the ARV1 gene, when testing for ataxia genes is negative. The under...
Source: Cerebellum - September 25, 2023 Category: Neuroscience Authors: Mahesh Kamate Thanuja Basavanagowda Source Type: research
ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein
This study provides a comprehensive literature review of the cases reported so far, thus expanding the understanding of the spectrum of presentation, and helps in correlating the clinical picture with the underlying causative genetic mutation. ARV1 gene is another example of one gene with phenotypic pleiotropy. Though presentation with DEE is common, a few, especially those with missense mutations, can present with ataxia and ocular abnormalities. All cases presenting with ataxia who have increased alpha-fetoprotein levels and seizures should be tested for the ARV1 gene, when testing for ataxia genes is negative. The under...
Source: Cerebellum - September 25, 2023 Category: Neuroscience Authors: Mahesh Kamate Thanuja Basavanagowda Source Type: research
ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein
This study provides a comprehensive literature review of the cases reported so far, thus expanding the understanding of the spectrum of presentation, and helps in correlating the clinical picture with the underlying causative genetic mutation. ARV1 gene is another example of one gene with phenotypic pleiotropy. Though presentation with DEE is common, a few, especially those with missense mutations, can present with ataxia and ocular abnormalities. All cases presenting with ataxia who have increased alpha-fetoprotein levels and seizures should be tested for the ARV1 gene, when testing for ataxia genes is negative. The under...
Source: Cerebellum - September 25, 2023 Category: Neuroscience Authors: Mahesh Kamate Thanuja Basavanagowda Source Type: research
ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein
This study provides a comprehensive literature review of the cases reported so far, thus expanding the understanding of the spectrum of presentation, and helps in correlating the clinical picture with the underlying causative genetic mutation. ARV1 gene is another example of one gene with phenotypic pleiotropy. Though presentation with DEE is common, a few, especially those with missense mutations, can present with ataxia and ocular abnormalities. All cases presenting with ataxia who have increased alpha-fetoprotein levels and seizures should be tested for the ARV1 gene, when testing for ataxia genes is negative. The under...
Source: Cerebellum - September 25, 2023 Category: Neuroscience Authors: Mahesh Kamate Thanuja Basavanagowda Source Type: research
ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein
This study provides a comprehensive literature review of the cases reported so far, thus expanding the understanding of the spectrum of presentation, and helps in correlating the clinical picture with the underlying causative genetic mutation. ARV1 gene is another example of one gene with phenotypic pleiotropy. Though presentation with DEE is common, a few, especially those with missense mutations, can present with ataxia and ocular abnormalities. All cases presenting with ataxia who have increased alpha-fetoprotein levels and seizures should be tested for the ARV1 gene, when testing for ataxia genes is negative. The under...
Source: Cerebellum - September 25, 2023 Category: Neuroscience Authors: Mahesh Kamate Thanuja Basavanagowda Source Type: research
Digital Motor Biomarkers of Cerebellar Ataxia Using an RGB-Depth Camera-Based Motion Analysis System
This study aimed to identify quantitative biomarkers of motor function for cerebellar ataxia by evaluating gait and postural control using an RGB-depth camera-based motion analysis system. In 28 patients with degenerative cerebellar ataxia and 33 age- and sex-matched healthy controls, motor tasks (short-distance walk, closed feet stance, and stepping in place) were selected from a previously reported protocol, and scanned using Kinect V2 and customized software. The Clinical Assessment Scale for the Assessment and Rating of Ataxia (SARA) was also evaluated. Compared with the normal control group, the cerebellar ataxia grou...
Source: Cerebellum - September 18, 2023 Category: Neuroscience Authors: Masahide Suzuki Shigeki Hirano Karen Otte Tanja Schmitz-H übsch Michiko Izumi Mitsuyoshi Tamura Ryota Kuroiwa Atsuhiko Sugiyama Masahiro Mori Hanna M R öhling Alexander U Brandt Atsushi Murata Friedemann Paul Satoshi Kuwabara Source Type: research
Digital Motor Biomarkers of Cerebellar Ataxia Using an RGB-Depth Camera-Based Motion Analysis System
This study aimed to identify quantitative biomarkers of motor function for cerebellar ataxia by evaluating gait and postural control using an RGB-depth camera-based motion analysis system. In 28 patients with degenerative cerebellar ataxia and 33 age- and sex-matched healthy controls, motor tasks (short-distance walk, closed feet stance, and stepping in place) were selected from a previously reported protocol, and scanned using Kinect V2 and customized software. The Clinical Assessment Scale for the Assessment and Rating of Ataxia (SARA) was also evaluated. Compared with the normal control group, the cerebellar ataxia grou...
Source: Cerebellum - September 18, 2023 Category: Neuroscience Authors: Masahide Suzuki Shigeki Hirano Karen Otte Tanja Schmitz-H übsch Michiko Izumi Mitsuyoshi Tamura Ryota Kuroiwa Atsuhiko Sugiyama Masahiro Mori Hanna M R öhling Alexander U Brandt Atsushi Murata Friedemann Paul Satoshi Kuwabara Source Type: research
Digital Motor Biomarkers of Cerebellar Ataxia Using an RGB-Depth Camera-Based Motion Analysis System
This study aimed to identify quantitative biomarkers of motor function for cerebellar ataxia by evaluating gait and postural control using an RGB-depth camera-based motion analysis system. In 28 patients with degenerative cerebellar ataxia and 33 age- and sex-matched healthy controls, motor tasks (short-distance walk, closed feet stance, and stepping in place) were selected from a previously reported protocol, and scanned using Kinect V2 and customized software. The Clinical Assessment Scale for the Assessment and Rating of Ataxia (SARA) was also evaluated. Compared with the normal control group, the cerebellar ataxia grou...
Source: Cerebellum - September 18, 2023 Category: Neuroscience Authors: Masahide Suzuki Shigeki Hirano Karen Otte Tanja Schmitz-H übsch Michiko Izumi Mitsuyoshi Tamura Ryota Kuroiwa Atsuhiko Sugiyama Masahiro Mori Hanna M R öhling Alexander U Brandt Atsushi Murata Friedemann Paul Satoshi Kuwabara Source Type: research
Digital Motor Biomarkers of Cerebellar Ataxia Using an RGB-Depth Camera-Based Motion Analysis System
This study aimed to identify quantitative biomarkers of motor function for cerebellar ataxia by evaluating gait and postural control using an RGB-depth camera-based motion analysis system. In 28 patients with degenerative cerebellar ataxia and 33 age- and sex-matched healthy controls, motor tasks (short-distance walk, closed feet stance, and stepping in place) were selected from a previously reported protocol, and scanned using Kinect V2 and customized software. The Clinical Assessment Scale for the Assessment and Rating of Ataxia (SARA) was also evaluated. Compared with the normal control group, the cerebellar ataxia grou...
Source: Cerebellum - September 18, 2023 Category: Neuroscience Authors: Masahide Suzuki Shigeki Hirano Karen Otte Tanja Schmitz-H übsch Michiko Izumi Mitsuyoshi Tamura Ryota Kuroiwa Atsuhiko Sugiyama Masahiro Mori Hanna M R öhling Alexander U Brandt Atsushi Murata Friedemann Paul Satoshi Kuwabara Source Type: research
Digital Motor Biomarkers of Cerebellar Ataxia Using an RGB-Depth Camera-Based Motion Analysis System
This study aimed to identify quantitative biomarkers of motor function for cerebellar ataxia by evaluating gait and postural control using an RGB-depth camera-based motion analysis system. In 28 patients with degenerative cerebellar ataxia and 33 age- and sex-matched healthy controls, motor tasks (short-distance walk, closed feet stance, and stepping in place) were selected from a previously reported protocol, and scanned using Kinect V2 and customized software. The Clinical Assessment Scale for the Assessment and Rating of Ataxia (SARA) was also evaluated. Compared with the normal control group, the cerebellar ataxia grou...
Source: Cerebellum - September 18, 2023 Category: Neuroscience Authors: Masahide Suzuki Shigeki Hirano Karen Otte Tanja Schmitz-H übsch Michiko Izumi Mitsuyoshi Tamura Ryota Kuroiwa Atsuhiko Sugiyama Masahiro Mori Hanna M R öhling Alexander U Brandt Atsushi Murata Friedemann Paul Satoshi Kuwabara Source Type: research
Digital Motor Biomarkers of Cerebellar Ataxia Using an RGB-Depth Camera-Based Motion Analysis System
This study aimed to identify quantitative biomarkers of motor function for cerebellar ataxia by evaluating gait and postural control using an RGB-depth camera-based motion analysis system. In 28 patients with degenerative cerebellar ataxia and 33 age- and sex-matched healthy controls, motor tasks (short-distance walk, closed feet stance, and stepping in place) were selected from a previously reported protocol, and scanned using Kinect V2 and customized software. The Clinical Assessment Scale for the Assessment and Rating of Ataxia (SARA) was also evaluated. Compared with the normal control group, the cerebellar ataxia grou...
Source: Cerebellum - September 18, 2023 Category: Neuroscience Authors: Masahide Suzuki Shigeki Hirano Karen Otte Tanja Schmitz-H übsch Michiko Izumi Mitsuyoshi Tamura Ryota Kuroiwa Atsuhiko Sugiyama Masahiro Mori Hanna M R öhling Alexander U Brandt Atsushi Murata Friedemann Paul Satoshi Kuwabara Source Type: research
A Case of Coexistent Spinocerebellar Ataxia Type 2 and Primary Progressive Multiple Sclerosis-Coincidental or Associated?
We report a rare case of a 41-year-old woman with coexistent genetically verified SCA2 and primary progressive multiple sclerosis (MS). Considering our case and a few others reported in the literature, as well as a possible genetic association between ATXN2 and MS susceptibility, we suggest that the coexistence of SCA and MS may not be coincidental, especially in patients with a progressive MS course.PMID:37715888 | DOI:10.1007/s12311-023-01605-6 (Source: Cerebellum)
Source: Cerebellum - September 16, 2023 Category: Neuroscience Authors: Elif Everest Bade Gulec Ugur Uygunoglu Source Type: research
