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

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 journal › Article › peer-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 language	English
Pages (from-to)	100-102
Number of pages	3
Journal	Neurology
Volume	62
Issue number	1
Publication status	Published - Jan 13 2004

ASJC Scopus subject areas

Neuroscience(all)

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title = "A novel mutation in SACS gene in a family from southern Italy",

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.",

author = "Chiara Criscuolo and S. Banfi and M. Orio and P. Gasparini and A. Monticelli and V. Scarano and Santorelli, {F. M.} and A. Perretti and L. Santoro and {De Michele}, G. and A. Filla",

year = "2004",

month = jan,

day = "13",

language = "English",

volume = "62",

pages = "100--102",

journal = "Neurology",

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TY - JOUR

T1 - A novel mutation in SACS gene in a family from southern Italy

AU - Criscuolo, Chiara

AU - Banfi, S.

AU - Orio, M.

AU - Gasparini, P.

AU - Monticelli, A.

AU - Scarano, V.

AU - Santorelli, F. M.

AU - Perretti, A.

AU - Santoro, L.

AU - De Michele, G.

AU - Filla, A.

PY - 2004/1/13

Y1 - 2004/1/13

N2 - 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.

AB - 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.

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VL - 62

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EP - 102

JO - Neurology

JF - Neurology

SN - 0028-3878

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