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Genetic and clinical analyses of spinocerebellar ataxia type 8 in mainland China
- Source :
- Journal of Neurology. 266:2979-2986
- Publication Year :
- 2019
- Publisher :
- Springer Science and Business Media LLC, 2019.
-
Abstract
- Spinocerebellar ataxia type 8 (SCA8) is a rare autosomal dominant neurodegenerative disease caused by CTA/CTG repeat expansion in the ATXN8/ATXN8OS gene. 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. 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). 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.
- Subjects :
- Adult
Male
musculoskeletal diseases
Proband
China
congenital, hereditary, and neonatal diseases and abnormalities
Pathology
medicine.medical_specialty
Ataxia
Neurology
Adolescent
Cohort Studies
Pathogenesis
Young Adult
03 medical and health sciences
0302 clinical medicine
medicine
Humans
030212 general & internal medicine
Child
Aged
Spinocerebellar Degenerations
Southern blot
Dyskinesias
business.industry
Middle Aged
Paroxysmal dyskinesia
medicine.disease
nervous system diseases
Phenotype
Spinocerebellar ataxia
Female
Neurology (clinical)
medicine.symptom
Trinucleotide Repeat Expansion
Trinucleotide repeat expansion
business
psychological phenomena and processes
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 14321459 and 03405354
- Volume :
- 266
- Database :
- OpenAIRE
- Journal :
- Journal of Neurology
- Accession number :
- edsair.doi.dedup.....a3baa02c87ab7dd15bec263e2beb3bf5