Results 1 to 10 of about 81,081 (302)

Alcohol induces sensitization to gluten in genetically susceptible individuals: a case control study. [PDF]

PLoS ONE, 2013
BackgroundThe mechanisms of cerebellar degeneration attributed to prolonged and excessive alcohol intake remain unclear. Additional or even alternative causes of cerebellar degeneration are often overlooked in suspected cases of alcohol-related ataxia ...
Stuart Currie, Nigel Hoggard, Matthew J R Clark, David S Sanders, Iain D Wilkinson, Paul D Griffiths, Marios Hadjivassiliou   +6 more
doaj   +13 more sources

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
doaj   +2 more sources

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

Autoimmune Neurobeachin Cerebellar Ataxia. [PDF]

Mov Disord
AbstractBackgroundThere are more than 30 immunoglobulin G (IgG) autoantibody biomarkers of autoimmune cerebellar ataxia reported.ObjectiveTo describe a novel IgG biomarker targeting neurobeachin, a scaffolding protein integral to synapse formation and function.MethodsClinical and laboratory‐based assessment was used for a novel diagnostic biomarker of ...
Basal E, Gilligan M, Lesnick C, McKeon A.   +3 more
europepmc   +3 more sources

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
doaj   +1 more source

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
doaj   +1 more source

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
doaj   +1 more source

Treatable cerebellar ataxias

Clinical Parkinsonism & Related Disorders, 2020
Cerebellar ataxic syndrome is a heterogenous class of disorders which can result from a miscellany of causes- genetic or acquired. There are a few metabolic, immune mediated, inflammatory and hereditary causes of ataxia which can be diagnosed from the gamut of possibilities, offering great relief to the ailing patient, their family and the treating ...
Divya K.P., Asha Kishore
openaire   +3 more sources

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