Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset familial disease with prominent myelinated fibers in the optic fundus. ARSACS is frequent in the Charlevoix-Saguenay region of Quebec but rare elsewhere. Mutations in SACS, encoding sacsin, a protein of unknown function, are associated with ARSACS. The authors identified three new SACS mutations in two Italian patients whose phenotype closely matches that of Quebec cases, but without retinal striation.
Grieco
G S
GS
Molecular Neurogenetics, IRCCS-C Mondino, Center of Experimental Neurobiology Mondino-Tor Vergata-S. Lucia, Rome, Italy.
Malandrini
A
A
Comanducci
G
G
Leuzzi
V
V
Valoppi
M
M
Tessa
A
A
Palmeri
S
S
Benedetti
L
L
Pierallini
A
A
Gambelli
S
S
Federico
A
A
Pierelli
F
F
Bertini
E
E
Casali
C
C
Santorelli
F M
FM
D000328:Adult; D017668:Age of Onset; D001259:Ataxia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D002531:Cerebellum / Q000473:pathology; D003241:Consanguinity; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005808:Genes, Recessive / Q000235:genetics*; D006580:Genetic Carrier Screening; D006239:Haplotypes; D006360:Heat-Shock Proteins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007558:Italy; D008279:Magnetic Resonance Imaging; D008297:Male; D008969:Molecular Sequence Data; D009128:Muscle Spasticity / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D010641:Phenotype
D006360:Heat-Shock Proteins; C404403:SACS protein, human