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30.08.2019 | Original Communication

Genetic and clinical analyses of spinocerebellar ataxia type 8 in mainland China

verfasst von: Yao Zhou, Yanchun Yuan, Zhen Liu, Sheng Zeng, Zhao Chen, Lu Shen, Hong Jiang, Kun Xia, Beisha Tang, Junling Wang

Erschienen in: Journal of Neurology | Ausgabe 12/2019

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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.

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Titel: Genetic and clinical analyses of spinocerebellar ataxia type 8 in mainland China
verfasst von: Yao Zhou
Yanchun Yuan
Zhen Liu
Sheng Zeng
Zhao Chen
Lu Shen
Hong Jiang
Kun Xia
Beisha Tang
Junling Wang
Publikationsdatum: 30.08.2019
Verlag: Springer Berlin Heidelberg
Erschienen in: Journal of Neurology / Ausgabe 12/2019
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-019-09519-2

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Abstract

Background

Methods

Results

Conclusion

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