Genetic and Clinical Analyses of Spinocerebellar Ataxia Type 8 in Mainland China

Overview

Journal J Neurol

Specialty Neurology

Date 2019 Sep 1

PMID 31471687

Citations 6

Authors

Yao Zhou

Yanchun Yuan

Zhen Liu

Sheng Zeng

Zhao Chen

Lu Shen

Hong Jiang

Kun Xia

Beisha Tang

Junling Wang

Affiliations

Soon will be listed here.

Abstract

Background: Spinocerebellar ataxia type 8 (SCA8) is a rare autosomal dominant neurodegenerative disease caused by CTA/CTG repeat expansion in the ATXN8/ATXN8OS gene.

Methods: To analyze the frequency and clinical characteristics of SCA8 patients in mainland China, we combined polymerase chain reaction (PCR) and triplet repeat-primed PCR (TRP-PCR) to detect the CTA/CTG expansion. We studied a cohort of 362 ataxia patients in which the other known causative genes had been previously excluded, from among 1294 index patients. Positive samples were validated by southern blotting.

Results: The CTA/CTG expansion was observed in six probands, accounting for approximately 0.46% (6/1294) in all patients, and 1.66% (6/362) in patients without definite molecular diagnosis. Clinically, aside from the typical SCA8 phenotype, some patients carrying the CTA/CTG expansion exhibited the cerebellar form of multisystem atrophy (MSA-C) and ataxia with paroxysmal kinesigenic dyskinesia (PKD).

Conclusion: For the first time, we described the PKD phenotype in association with CTA/CTG expansion, suggesting that CTA/CTG expansion might play a role in the pathogenesis of paroxysmal dyskinesia symptoms.

Citing Articles

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