An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss

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...

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Bibliographic Details
Published in:Neurogenetics 2009-04, Vol.10 (2), p.151-155
Main Authors: Terracciano, Alessandra, Casali, Carlo, Grieco, Gaetano S., Orteschi, Daniela, Di Giandomenico, Silvia, Seminara, Laura, Di Fabio, Roberto, Carrozzo, Rosalba, Simonati, Alessandro, Stevanin, Giovanni, Zollino, Marcella, Santorelli, Filippo M.
Format: Article
Language:English
Subjects:
Adult
Ataxia - genetics
Ataxia - physiopathology
Biological and medical sciences
Biomedical and Life Sciences
Biomedicine
Case studies
Chromosome Deletion
Chromosomes, Human, Pair 13
DNA Mutational Analysis
Female
Fundamental and applied biological sciences. Psychology
Genetic disorders
Genetics of eukaryotes. Biological and molecular evolution
Genotype & phenotype
Hearing Loss - genetics
Heat-Shock Proteins - genetics
Human Genetics
Humans
Male
Medical sciences
Microarray Analysis
Middle Aged
Molecular and cellular biology
Molecular Medicine
Mutation
Nervous system (semeiology, syndromes)
Nervous system as a whole
Neurological disorders
Neurology
Neurosciences
Pedigree
Phenotype
Short Communication
Vertebrates: nervous system and sense organs
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Description
Summary: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 ∼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.
ISSN:1364-6745
1364-6753
DOI:10.1007/s10048-008-0159-8