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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 Cover

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
Volume 10 (2020): Issue 0
By: Jindapa Srikajon,  Yuvadee Pitakpatapee,  Chanin Limwongse,  Niphon Chirapapaisan and  Prachaya Srivanitchapoom  
Open Access
|Jun 2020

Figures & Tables

Video 1

Phenomenology of the patient. (Segment 1) Saccadic pursuit, hypermetric saccades, horizontal and vertical gaze-evoked nystagmus; (Segment 2) Scanning speech, finger dysmetria; (Segment 3) Wide-based ataxic gait as well as spastic gait, and bilateral Pes cavus.

tohm-10-1-68-g1.jpg
Figure 1

Funduscopic and Neuroimaging findings of the patient. (1A) Hypermyelinated nerve fibers radiating from the optic disc (black arrow); (1B) T2-weighted brain MRI showed multiple perpendicular linear hypointensities in pontine parenchyma (black arrow) and (1C) Superoanterior vermian (white arrow) and superior cerebellar peduncle (white arrow head) atrophy, as well as mild atrophy of the cervical spinal cord (black arrow with dash outline).

DOI: https://doi.org/10.5334/tohm.68 | Journal eISSN: 2160-8288
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Language: English
Submitted on: Jan 16, 2020
Accepted on: Apr 15, 2020
Published on: Jun 8, 2020
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
Keywords:
Autosomal recessive spastic ataxia of Charlevoix-Saguenay,
ARSACS,
SACS gene,
novel mutation,
hereditary ataxia

© 2020 Jindapa Srikajon, Yuvadee Pitakpatapee, Chanin Limwongse, Niphon Chirapapaisan, Prachaya Srivanitchapoom, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.

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