Tremor and Other Hyperkinetic Movements | |
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) in a Thai Patient: The Classic Clinical Manifestations, Funduscopic Feature, and Brain Imaging Findings with a Novel Mutation in the SACS Gene | |
article | |
Jindapa Srikajon1  Yuvadee Pitakpatapee1  Chanin Limwongse2  Niphon Chirapapaisan3  Prachaya Srivanitchapoom1  | |
[1] Division of Neurology, Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University;Division of Medical Genetics, Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University;Department of Ophthalmology, Faculty of Medicine, Siriraj Hospital, Mahidol University | |
关键词: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; ARSACS; SACS gene; novel mutation; hereditary ataxia; | |
DOI : 10.5334/tohm.68 | |
学科分类:社会科学、人文和艺术(综合) | |
来源: Ubiquity Press | |
【 摘 要 】
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.
【 授权许可】
CC BY
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