Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited neurodegenerative disorder characterized by early-onset, spastic ataxia and peripheral neuropathy. It was originally described in an inbred population of Quebec and later in some other countries. We report a new missense SACS mutation (7848C>T) in a Spanish family whose phenotype is similar to that of the previously described ARSACS patients. 7848C>T is the first SACS mutation reported in Spain confirming worldwide distribution of the disease. (c) 2005 Movement Disorder Society.
Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia / Criscuolo, Chiara; Sacca', Francesco; DE MICHELE, Giuseppe; Mancini, P; Combarros, O; Infante, J; Garcia, A; Banfi, S; Filla, Alessandro; Berciano, J.. - In: MOVEMENT DISORDERS. - ISSN 0885-3185. - STAMPA. - 20:(2005), pp. 1358-1361.
Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia
CRISCUOLO, CHIARA;SACCA', FRANCESCO;DE MICHELE, GIUSEPPE;FILLA, ALESSANDRO;
2005
Abstract
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited neurodegenerative disorder characterized by early-onset, spastic ataxia and peripheral neuropathy. It was originally described in an inbred population of Quebec and later in some other countries. We report a new missense SACS mutation (7848C>T) in a Spanish family whose phenotype is similar to that of the previously described ARSACS patients. 7848C>T is the first SACS mutation reported in Spain confirming worldwide distribution of the disease. (c) 2005 Movement Disorder Society.File | Dimensione | Formato | |
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