Abstract
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.
Highlights
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; she became wheelchair-bound at the age of 28 years
The ethnicity of the patient and her family were Thai. She and her family were originated from Cerebellar dysfunctions, including saccadic pursuit, hypermetric saccades, horizontal and vertical gaze-evoked nystagmus, scanning speech, finger dysmetria, and wide-based ataxic gait as well as spastic gait were presented (Video 1)
Srikajon et al: The First Case Report of ARSACS in Thailand with a Novel Gene Mutation of a diagnosis of ARSACS in the patient who is presented with FXN gene negative early-onset spastic ataxia
Summary
Autosomal Recessive Spastic Ataxia of CharlevoixSaguenay (ARSACS) in a Thai Patient: The Classic Clinical Manifestations, Funduscopic Feature, and Brain Imaging Findings with a Novel Mutation in the SACS Gene. Jindapa Srikajon*, Yuvadee Pitakpatapee*, Chanin Limwongse†, Niphon Chirapapaisan‡ and Prachaya Srivanitchapoom*
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callMore From: Tremor and other hyperkinetic movements (New York, N.Y.)
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
