ARSACSAutosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
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Homozygous contiguous gene deletion of 13q12 causing LGMD2C and ARSACS in the same patient.
9] Nonstandard abbreviations: NMD, neuromuscular disorder; aCGH, array-based comparative genomic hybridization; CNV, copy-number variation; LGMD2C, limb-girdle muscular dystrophy type 2C; MLPA, multiplex ligation-dependent probe amplification; AOA2, ataxia with oculomotor apraxia type 2; ARSACS, autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Hudson has made numerous scientific achievements including recent cloning of a gene for a neurodegenerative disease called ARSACS, a disease that affects 300 individuals in northeastern Quebec; mapping of a gene causing infantile cirrhosis and identification of mutations involved in diabetes and lipid disorders.