Maternal transmission in sporadic Huntington's disease

Aurora Sánchez, Montserrat Milà, Sergi Castellví-Bel, Marcel Rosich, Dolores Jiménez, Celia Badenas, Xavier P. Estivill

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12 Citations (Scopus)

Abstract

Huntington's disease is an autosomal dominant neurodegenerative disorder caused by the expansion of a (CAG)(n) repeat in the IT15 gene. Three per cent of cases are sporadic and in those in which family studies have been performed, the origin of the mutation was always paternal. The first sporadic case of Huntington's disease is presented in which a premutated maternal allele of 37 CAG repeats was transmitted expanded to the proband (43 CAG repeats). Molecular analysis of the IT15 gene is extremely important in sporadic cases of Huntington's disease, providing correct diagnosis of the disorder and facilitating genetic counselling to the family members.

Original languageEnglish
Pages (from-to)535-537
Number of pages3
JournalJournal of Neurology Neurosurgery and Psychiatry
Volume62
Issue number5
Publication statusPublished - May 1997
Externally publishedYes

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Keywords

  • Huntington's disease
  • IT15 gene
  • Sporadic case

ASJC Scopus subject areas

  • Surgery
  • Arts and Humanities (miscellaneous)
  • Clinical Neurology
  • Psychiatry and Mental health

Cite this

Sánchez, A., Milà, M., Castellví-Bel, S., Rosich, M., Jiménez, D., Badenas, C., & Estivill, X. P. (1997). Maternal transmission in sporadic Huntington's disease. Journal of Neurology Neurosurgery and Psychiatry, 62(5), 535-537.