A 20-year-old German man had progressive ataxia, spasticity, and polyneuropathy from childhood. MRI revealed linear pontine hypointensities (figure, A) and cerebellar atrophy (figure, B). Funduscopy showed myelinated fibers radiating from the optic disc (figure, C). Autosomal recessive spastic ataxia Charlevoix-Saguenay (ARSACS) was diagnosed by identification of biallelic SACS gene mutations (chromosome 13q12). The gene product is sacsin, found in large neurons such as Purkinje cells, one of many ataxia-related proteins. ARSACS, first described in the French-Canadian founder population of Quebec, occurs outside Quebec,1,2 suggesting that worldwide screening in early-onset cerebellar ataxia with characteristic pontine and funduscopic abnormalities may identify additional cases.
(A) T2-weighted MRI shows linear hypointensities near the pyramidal tract in the pons on transversal slices and (B) cerebellar atrophy, predominantly of the superior vermis on sagittal slices. (C) Funduscopy shows myelinated fibers radiating from the optic disk.
Footnotes
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Disclosure: Dr. Gerwig and Dr. Krüger report no disclosures. Dr. Kreuz is the head of the Scientific Board of the Deutsche Heredo-Ataxie Gesellschaft e.V. (DHAG). Dr. Kreis and Dr. Gizewski report no disclosures. Dr. Timmann serves on the Medical Board of the DHAG and the Society for the Research on the Cerebellum; serves on the editorial advisory board of Gait & Posture and as a Section Editor for The Cerebellum and for InFo Neurologie & Psychiatrie; and receives research support from Merck Sharp & Dohme Corp., the German Research Foundation (DFG), The European Union, the Bernd Fink Foundation, and the German Heredoataxia Foundation.
- Copyright © 2010 by AAN Enterprises, Inc.
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