期刊
TREMOR AND OTHER HYPERKINETIC MOVEMENTS
卷 10, 期 -, 页码 -出版社
COLUMBIA UNIV LIBRARIES, CENTER DIGITAL RESEARCH & SCHOLARSHIP
DOI: 10.5334/tohm.68
关键词
Autosomal recessive spastic ataxia of Charlevoix-Saguenay; ARSACS; SACS gene; novel mutation; hereditary ataxia
Background: A 38-year-old woman was diagnosed autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) with a novel pathogenic variant in the SACS gene presented with gradually progressive spastic ataxia since the age of 2 years; then, she became wheelchair-bound at the age of 28 years. Phenomenology: The patient presented a combination of cerebellar dysfunctions e.g., gaze-evoked nystagmus, scanning speech, finger dysmetria, and wide-based gait, lower limb spasticity, and typical funduscopic examination which was a hypermyelinated nerve fibers radiating from the optic disc. Educational value: At present, ARSACS is recognized as a rare, worldwide, inherited movement disorder in which we should to aware of a diagnosis of this disorder in the patient who is presented with FXN gene negative early-onset spastic ataxia.
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