An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss.
Neurogenetics. 2008-11-20; 10(2): 151-155
DOI: 10.1007/s10048-008-0159-8
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1. Neurogenetics. 2009 Apr;10(2):151-5. doi: 10.1007/s10048-008-0159-8. Epub 2008
Nov 20.
An inherited large-scale rearrangement in SACS associated with spastic ataxia and
hearing loss.
Terracciano A(1), Casali C, Grieco GS, Orteschi D, Di Giandomenico S, Seminara L,
Di Fabio R, Carrozzo R, Simonati A, Stevanin G, Zollino M, Santorelli FM.
Author information:
(1)Molecular Medicine and Neurology, IRCCS Bambino Gesù Children’s Hospital,
Piazza S. Onofrio, 4 00165, Rome, Italy.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a neurodegenerative
disorder characterized by early-onset, spastic ataxia and peripheral neuropathy,
with or without mental retardation. The array of mutations in SACS has expanded
worldwide after the first description in Quebec. We herein report the
identification of an unconventional SACS mutation, a large-scale deletion sized
approximately 1.5 Mb encompassing the whole gene, in two unrelated patients. The
clinical phenotype of the patients was similar to more canonical ARSACS cases,
though it is was complicated by the unusual presence of hearing loss. Our
findings suggest that a « microdeletion » on chromosome 13q12 represents a novel
allelic variant associated with ARSACS, stressing the need for an expanded
testing in molecular diagnostic laboratories.
DOI: 10.1007/s10048-008-0159-8
PMID: 19031088 [Indexed for MEDLINE]