Spinocerebellar ataxia type 7: Report of a new Italian family

Domenico Italiano, Patrizia Tarantino, Elvira Valeria De Marco, Rocco Salvatore Calabrò, Placido Bramanti, Aldo Quattrone, Grazia Annesi

Research output: Contribution to journalArticlepeer-review

Abstract

Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disorder characterized by degeneration of the cerebellum, brainstem and retina. We herein describe a family from southern Italy whose proband was a 49- year-old man presenting with ataxia with progressive gait disturbances, clumsiness and visual impairment. A molecular analysis identified 38 cytosine-adenine-guanine (CAG) repeat expansions within the SCA7 gene. Our study confirms the marked anticipation previously observed in SCA7 and extends the small number of patients studied thus far. In this family, the disease is most likely caused by a de novo expansion of a permutated intermediate allele carried by one parent.

Original languageEnglish
Pages (from-to)2953-2955
Number of pages3
JournalInternal Medicine
Volume51
Issue number20
DOIs
Publication statusPublished - 2012

Keywords

  • Ataxia
  • CAG expansion
  • Neurodegenerative disease
  • SCA7

ASJC Scopus subject areas

  • Internal Medicine

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