title: Trinucleotide expansions in the SCA7 gene in a large family with spinocerebellar ataxia and craniocervical dystonia.
abstract: Spinocerebellar ataxia type 7 is a rare autosomal dominant cerebellar ataxia (ADCA). Herein, we describe the molecular and clinical findings in patients within six generations of a large Chinese family with spinocerebellar ataxia. To identify the genetic cause(s), 4 affected patients and 26 asymptomatic relatives were recruited for the study. Molecular screening of the SCA1 and SCA7 genes was carried out by subcloning and direct PCR-sequencing methods. Both neurological and ophthalmic examinations were performed to investigate the clinical characteristics of the disease. The patients had typical cerebellar ataxia, achromatopsia and macular degeneration, and displayed a rare phenotype manifesting as a combination of cerebellar ataxia and craniocervical dystonia. Mutational analysis of the SCA7 genes demonstrated expanded CAG-repeats in the four patients. In conclusion, we identified expanded CAG-repeats in the SCA7 gene within members of a large Chinese family with spinocerebellar ataxia. The defined phenotypic characteristics of the patients may be helpful for clinical diagnosis and genetic typing of new patients.
authors.affiliation: Department of Neurology, Second Affiliated Hospital of Wenzhou Medical College, Zhejiang 325000, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Lin
authors.forename: Jia-Yong
authors.initials: JY
authors.lastname: Zheng
authors.forename: Yan-Hui
authors.initials: YH
authors.lastname: Jin
authors.forename: Yan-Chen
authors.initials: YC
authors.lastname: Xie
authors.forename: Zi-Bing
authors.initials: ZB
authors.lastname: Jin
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D000067719:Ataxin-7; D002574:Cervical Vertebrae; D004421:Dystonia / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D005192:Family Health; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D020754:Spinocerebellar Ataxias / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D019680:Trinucleotide Repeat Expansion
chemical_list: C000593829:ATXN7 protein, human; D000067719:Ataxin-7; D009419:Nerve Tissue Proteins