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Vill, K.* ; Müller-Felber, W.* ; Gläser, D.* ; Kuhn, M.* ; Teusch, V.* ; Schreiber, H.* ; Weis, J.* ; Klepper, J.* ; Schirmacher, A.* ; Blaschek, A.* ; Wiessner, M.* ; Strom, T.M. ; Dräger, B.* ; Hofmeister-Kiltz, K.* ; Tacke, M.* ; Gerstl, L.* ; Young, P.* ; Horvath, R.* ; Senderek, J.*

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

Hum. Genet. 137, 911-919 (2018)

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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.

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Publication type Article: Journal article

Document type Scientific Article

Corresponding Author

Keywords Spastic Ataxia; Charlevoix-saguenay; Mutation; Protein; Arsacs; Gene; Abnormalities

ISSN (print) / ISBN 0340-6717

e-ISSN 1432-1203

Journal Human Genetics

Quellenangaben Volume: 137, Issue: 11-12, Pages: 911-919

Publisher Springer

Publishing Place 233 Spring St, New York, Ny 10013 Usa

Non-patent literature Publications

Reviewing status Peer reviewed

Institute(s) Institute of Human Genetics (IHG)