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.
A novel mutation in SACS gene in a family from southern Italy / Criscuolo, C; Banfi, S; Orio, M; Gasparini, P; Monticelli, A; Scarano, V; Santorelli, Fm; Perretti, ANNA CARMELA AGNESE; Santoro, Lucio; DE MICHELE, Giuseppe; Filla, Alessandro. - In: NEUROLOGY. - ISSN 0028-3878. - ELETTRONICO. - 62:1(2004), pp. 100-102.
A novel mutation in SACS gene in a family from southern Italy
PERRETTI, ANNA CARMELA AGNESE;SANTORO, LUCIO;DE MICHELE, GIUSEPPE;FILLA, ALESSANDRO
2004
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.| File | Dimensione | Formato | |
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