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.

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.