A novel mutation in SACS gene in a family from southern Italy

Chiara Criscuolo, S. Banfi, M. Orio, P. Gasparini, A. Monticelli, V. Scarano, F. M. Santorelli, A. Perretti, L. Santoro, G. De Michele, A. Filla

Research output: Contribution to journalArticlepeer-review

Abstract

A form of autosomal recessive spastic ataxia (ARSACS) has been described in the Charlevoix and Saguenay regions of Quebec. So far a frameshift and a nonsense mutation have been identified in the SACS gene. The authors report a new mutation (1859insC), leading to a frameshift with a premature termination of the gene product sacsin, in two sisters from consanguineous parents. The phenotype is similar to previously described patients with ARSACS.

Original languageEnglish
Pages (from-to)100-102
Number of pages3
JournalNeurology
Volume62
Issue number1
Publication statusPublished - Jan 13 2004

ASJC Scopus subject areas

  • Neuroscience(all)

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