Article
An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss.
Neurogenetics - 1 Apr 2009
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
Abstract excerpt
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...
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