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Article

A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.

European journal of neurology - 1 Nov 2013

Gregianin E, Vazza G, Scaramel E, Boaretto F, Vettori A, Leonardi E, Tosatto S C E, Manara R, Pegoraro E, Mostacciuolo M L

Abstract excerpt

BACKGROUND AND PURPOSE: Mutations in the SACS gene are commonly associated with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a complex neurodegenerative disorder characterized by progressive degeneration of the cerebellum and spinal cord tracts. The aim of this study was to identify the genetic cause of the disease in an Italian family with spastic paraplegia and peripheral neuropathy....

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Source

Identifiers

PMID: 23800155
DOI: 10.1111/ene.12220

Genes

SACS

Variants

Provenance

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Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.Semantic proximity Read ↗

Six novel SACS mutations expand the autosomal recessive spastic ataxia of Charlevoix-Saguenay spectrum.Semantic proximity Read ↗

Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families.Semantic proximity Read ↗

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Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay due to Novel Mutations in the SACS Gene.Semantic proximity Read ↗

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