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

Tremor and Other Hyperkinetic Movements

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