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Prominent Sensorimotor Neuropathy Due to SACS Mutations Revealed by Whole-Exome Sequencing

Lookup NU author(s): Dr Angela Pyle, Dr Helen GriffinORCiD, Dr Patrick Yu Wai Man, Dr Jennifer Duff, Gail Eglon, Dr Mauro Santibanez Koref, Professor Rita HorvathORCiD, Professor Patrick Chinnery


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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.2012.1472

Publication metadata

Author(s): Pyle A, Griffin H, Yu-Wai-Man P, Duff J, Eglon G, Pickering-Brown S, Santibanez-Korev M, Horvath R, Chinnery PF

Publication type: Article

Publication status: Published

Journal: Archives of Neurology

Year: 2012

Volume: 69

Issue: 10

Pages: 1351-1354

Print publication date: 01/10/2012

ISSN (print): 0003-9942

ISSN (electronic):

Publisher: American Medical Association


DOI: 10.1001/archneurol.2012.1472


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