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.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Adult
-
Age of Onset
-
Cerebellar Ataxia / complications
-
Cerebellar Ataxia / diagnosis*
-
Cerebellar Ataxia / genetics*
-
Consanguinity
-
DNA Mutational Analysis
-
Disease Progression
-
Female
-
Genes, Recessive
-
Genetic Linkage
-
Genetic Testing
-
Haplotypes
-
Hearing Loss / complications
-
Hearing Loss / diagnosis
-
Heat-Shock Proteins / genetics*
-
Humans
-
Intellectual Disability / complications
-
Intellectual Disability / diagnosis
-
Italy
-
Muscle Spasticity / complications
-
Muscle Spasticity / diagnosis
-
Mutation / genetics*
-
Nerve Fibers, Myelinated / pathology
-
Neural Conduction
-
Phenotype
-
Siblings
-
Sural Nerve / pathology
Substances
-
Heat-Shock Proteins
-
SACS protein, human