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SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy

Lookup NU author(s): Professor Rita Horvath


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© 2018, Springer-Verlag GmbH Germany, part of Springer Nature. Mutations in the SACS gene have been initially reported in a rare autosomal recessive cerebellar ataxia syndrome featuring prominent cerebellar atrophy, spasticity and peripheral neuropathy as well as retinal abnormalities in some cases (autosomal recessive spastic ataxia of Charlevoix–Saguenay, ARSACS). In the past few years, the phenotypic spectrum has broadened, mainly owing to the availability and application of high-throughput genetic testing methods. We identified nine patients (three sib pairs, three singleton cases) with isolated, non-syndromic hereditary motor and sensory neuropathy (HMSN) who carried pathogenic SACS mutations, either in the homozygous or compound heterozygous state. None of the patients displayed spasticity or pyramidal signs. Ataxia, which was noted in only three patients, was consistent with a sensory ataxia. Nerve conduction and nerve biopsy studies showed mixed demyelinating and axonal neuropathy. Brain MRI scans were either normal or revealed isolated upper vermis atrophy of the cerebellum. Our findings confirm the broad clinical spectrum associated with SACS mutations, including pure polyneuropathy without characteristic clinical and brain imaging manifestations of ARSACS.

Publication metadata

Author(s): Vill K, Muller-Felber W, Glaser D, Kuhn M, Teusch V, Schreiber H, Weis J, Klepper J, Schirmacher A, Blaschek A, Wiessner M, Strom TM, Drager B, Hofmeister-Kiltz K, Tacke M, Gerstl L, Young P, Horvath R, Senderek J

Publication type: Article

Publication status: Published

Journal: Human Genetics

Year: 2018

Volume: 137

Issue: 11-12

Pages: 911-919

Print publication date: 01/12/2018

Online publication date: 21/11/2018

Acceptance date: 29/10/2018

ISSN (print): 0340-6717

ISSN (electronic): 1432-1203

Publisher: Springer Verlag


DOI: 10.1007/s00439-018-1952-6

PubMed id: 30460542


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