Results 1 to 10 of about 46,276 (118)

Investigating ITM2B‐associated ataxia in a Taiwanese cerebellar ataxia cohort [PDF]

Annals of Clinical and Translational Neurology
Objective The genetic causes of a significant number of patients with cerebellar ataxia remain unsolved. Variations in the ITM2B gene, typically linked to dominantly inherited dementia, can sometimes present with cerebellar ataxia as an early symptom ...
Shih‐Yu Fang, Cheng‐Tsung Hsiao, Kang‐Yang Jih, Yu‐Sheun Tsai, Kuan‐Lin Lai, Cheng‐Ta Chou, Yi‐Chu Liao, Yi‐Chung Lee   +7 more
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Acute Cerebellar Inflammation and Related Ataxia: Mechanisms and Pathophysiology

Brain Sciences, 2022
The cerebellum governs motor coordination and motor learning. Infection with external microorganisms, such as viruses, bacteria, and fungi, induces the release and production of inflammatory mediators, which drive acute cerebellar inflammation.
Md. Sorwer Alam Parvez, Gen Ohtsuki
doaj   +1 more source

Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene [PDF]

Journal of Integrative Neuroscience, 2020
Autosomal recessive cerebellar ataxias comprise many types of diseases. The most frequent autosomal recessive cerebellar ataxias are Friedreich ataxia, but other types are relatively rare.
Haruo Shimazaki, Junya Kobayashi, Ryo Sugaya, Imaharu Nakano, Shigeru Fujimoto
doaj   +1 more source

Genetic Screening for Spinocerebellar Ataxia Genes in a Japanese Single-Hospital Cohort [PDF]

Journal of Movement Disorders, 2017
Objective Diagnosis of sporadic cerebellar ataxia is a challenge for neurologists. A wide range of potential causes exist, including chronic alcohol use, multiple system atrophy of cerebellar type (MSA-C), and sporadic late cortical cerebellar atrophy ...
Ryuji Sakakibara, Fuyuki Tateno, Masahiko Kishi, Yohei Tsuyusaki, Yosuke Aiba, Hitoshi Terada, Tsutomu Inaoka, Setsu Sawai, Satoshi Kuwabara, Fumio Nomura   +9 more
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A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia

Human Genome Variation, 2022
A heterozygous mutation in GRID2 that causes SCAR18 was first reported in an Algerian family with autosomal dominant cerebellar ataxia (ADCA). We identified the second ADCA family with a heterozygous GRID2 mutation.
Kishin Koh, Haruo Shimazaki, Matsuo Ogawa, Yoshihisa Takiyama   +3 more
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Cerebellar neuronal dysfunction accompanies early motor symptoms in spinocerebellar ataxia type 3

Disease Models & Mechanisms, 2022
Spinocerebellar ataxia type 3 (SCA3) is an adult-onset, progressive ataxia. SCA3 presents with ataxia before any gross neuropathology. A feature of many cerebellar ataxias is aberrant cerebellar output that contributes to motor dysfunction.
Kristin Mayoral-Palarz, Andreia Neves-Carvalho, Sara Duarte-Silva, Daniela Monteiro-Fernandes, Patrícia Maciel, Kamran Khodakhah   +5 more
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Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia. [PDF]

PLoS ONE, 2017
Adrenoleukodystrophy (ALD) is a rare and progressive neurogenetic disease that may manifest disparate symptoms. The present study aims at investigating the role of ataxic variant of ALD (AVALD) in patients with adult-onset cerebellar ataxia, as well as ...
Ying-Hao Chen, Yi-Chung Lee, Yu-Shuen Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Pei-Chien Tsai, Jin-An Huang, Yi-Chu Liao, Bing-Wen Soong   +8 more
doaj   +1 more source

Location of lesion determines motor vs. cognitive consequences in patients with cerebellar stroke

NeuroImage: Clinical, 2016
Cerebellar lesions can cause motor deficits and/or the cerebellar cognitive affective syndrome (CCAS; Schmahmann's syndrome). We used voxel-based lesion-symptom mapping to test the hypothesis that the cerebellar motor syndrome results from anterior lobe ...
Catherine J. Stoodley, Jason P. MacMore, Nikos Makris, Janet C. Sherman, Jeremy D. Schmahmann   +4 more
doaj   +1 more source

Acute Cerebellar Ataxia Associated with Modest Elevation of Anti-GAD Antibodies in a Young Patient

Tremor and Other Hyperkinetic Movements, 2019
Background: Anti-GAD-related cerebellar ataxia has rarely been described as an acute cause of autoimmune ataxia. Phenomenology Shown: A young female who acutely developed anti-GAD-associated ataxia with magnetic resonance imaging (MRI) showing ...
Juliana Gomez, Dongkwan Jin
doaj   +1 more source

Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed

Arquivos de Neuro-Psiquiatria, 2013
Autosomal recessive cerebellar ataxias are a heterogeneous group of neurological disorders. In 1981, a neurological entity comprised by early onset progressive cerebellar ataxia, dysarthria, pyramidal weakness of the limbs and retained or increased upper
Jose Luiz Pedroso, Pedro Braga-Neto, Irapua Ferreira Ricarte, Marcus Vinicius Cristino Albuquerque, Orlando Graziani Povoas Barsottini   +4 more
doaj   +1 more source