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Article

Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing.

Archives of neurology - 1 Oct 2012

Pyle Angela, Griffin Helen, Yu-Wai-Man Patrick, Duff Jennifer, Eglon Gail, Pickering-Brown Stuart, Santibanez-Korev Mauro, Horvath Rita, Chinnery Patrick F

Abstract excerpt

OBJECTIVE: To determine the genetic basis of an unexplained multisystem neurological disorder affecting 2 siblings. DESIGN: Case reports and whole-exome DNA sequencing. SETTING: Neurogenetics clinic, Institute of Genetic Medicine, Newcastle upon Tyne, England. PATIENTS: Two adult siblings with a sensorimotor neuropathy, ataxia, and spasticity. MAIN OUTCOME MEASURES: Clinical, neurophysiological, imaging, and...

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Identifiers

PMID: 22751902
DOI: 10.1001/archneurol.2012.1472

Genes

SACS

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