Exclusion of CLIC5 as a Candidate Gene and Identification of NEFM as a Possible Novel Gene Correlated With Autosomal Recessive Pure Cerebellar Ataxia in a Highly Consanguineous Family [PDF]
Molecular Genetics & Genomic MedicineBackground Pure cerebellar ataxia is a neurological disorder characterised by isolated cerebellar dysfunction, arising from either developmental anomalies or progressive degenerative processes. Precise genetic diagnosis remains challenging.
Paolo Enrico Maltese +14 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
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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
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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 +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 +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 +5 more
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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
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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 +8 more
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Clinical Recognition of Sensory Ataxia and Cerebellar Ataxia [PDF]
Frontiers in Human Neuroscience, 2021 Ataxia is a kind of external characteristics when the human body has poor coordination and balance disorder, it often indicates diseases in certain parts of the body. Many internal factors may causing ataxia; currently, observed external characteristics, combined with Doctor’s personal clinical experience play main roles in diagnosing ataxia.
Qing Zhang +5 more
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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 +4 more
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