Chinnery PF

Duff J

Eglon G

Griffin H

Horvath R

Pickering-Brown S

Pyle A

Santibanez-Korev M

Yu-Wai-Man P

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 genetic data. Results: Novel compound heterozygous frameshift mutations were detected in the SACS gene of both siblings, predicted to drastically truncate the sacsin protein. Conclusions: Whole-exome sequencing rapidly defined the genetic cause of the disorder, expanding the clinical phenotype associated with SACS mutations to include a severe sensorimotor neuropathy. Arch Neurol. 2012;69(10):1351-1354. Published online July 2, 2012. doi:10.1001/archneurol.2012.147

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Prominent Sensorimotor Neuropathy Due to <em>SACS</em> Mutations Revealed by Whole-Exome Sequencing

Prominent Sensorimotor Neuropathy Due to <em>SACS</em> Mutations Revealed by Whole-Exome Sequencing

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