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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2004-1-13
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pubmed:databankReference |
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pubmed:abstractText |
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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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1526-632X
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pubmed:author |
pubmed-author:BanfiSS,
pubmed-author:CriscuoloCC,
pubmed-author:De MicheleGG,
pubmed-author:FillaAA,
pubmed-author:GaspariniPP,
pubmed-author:MonticelliAA,
pubmed-author:OrioMM,
pubmed-author:PerrettiAA,
pubmed-author:SantorelliF MFM,
pubmed-author:SantoroLL,
pubmed-author:ScaranoVV
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pubmed:issnType |
Electronic
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pubmed:day |
13
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pubmed:volume |
62
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
100-2
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:14718706-Adult,
pubmed-meshheading:14718706-Age of Onset,
pubmed-meshheading:14718706-Cerebellar Ataxia,
pubmed-meshheading:14718706-Consanguinity,
pubmed-meshheading:14718706-DNA Mutational Analysis,
pubmed-meshheading:14718706-Disease Progression,
pubmed-meshheading:14718706-Female,
pubmed-meshheading:14718706-Genes, Recessive,
pubmed-meshheading:14718706-Genetic Linkage,
pubmed-meshheading:14718706-Genetic Testing,
pubmed-meshheading:14718706-Haplotypes,
pubmed-meshheading:14718706-Hearing Loss,
pubmed-meshheading:14718706-Heat-Shock Proteins,
pubmed-meshheading:14718706-Humans,
pubmed-meshheading:14718706-Intellectual Disability,
pubmed-meshheading:14718706-Italy,
pubmed-meshheading:14718706-Muscle Spasticity,
pubmed-meshheading:14718706-Mutation,
pubmed-meshheading:14718706-Nerve Fibers, Myelinated,
pubmed-meshheading:14718706-Neural Conduction,
pubmed-meshheading:14718706-Phenotype,
pubmed-meshheading:14718706-Siblings,
pubmed-meshheading:14718706-Sural Nerve
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pubmed:year |
2004
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pubmed:articleTitle |
A novel mutation in SACS gene in a family from southern Italy.
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pubmed:affiliation |
Department of Neurological Sciences, Federico II University, Naples, Italy. sky569@libero.it
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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