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      Trinucleotide expansions in the SCA7 gene in a large family with spinocerebellar ataxia and craniocervical dystonia.

      1 , , , ,
      Neuroscience letters
      Elsevier BV

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          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.

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          Author and article information

          Journal
          Neurosci. Lett.
          Neuroscience letters
          Elsevier BV
          0304-3940
          0304-3940
          Mar 28 2008
          : 434
          : 2
          Affiliations
          [1 ] Department of Neurology, Second Affiliated Hospital of Wenzhou Medical College, Zhejiang 325000, China.
          Article
          S0304-3940(08)00147-X
          10.1016/j.neulet.2008.01.077
          18325672
          aab5453b-3bbf-4fc2-96ff-0c3d95dcb2fd
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