Publication:
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

Issued Date

2020-01-01

Resource Type

Article

ISSN

21608288

DOI

10.5334/tohm.68

Other identifier(s)

2-s2.0-85089333012

Rights

Mahidol University

Rights Holder(s)

SCOPUS

Bibliographic Citation

Tremor and Other Hyperkinetic Movements. Vol.10, (2020), 1-3

Suggested Citation

Jindapa Srikajon, Yuvadee Pitakpatapee, Chanin Limwongse, Niphon Chirapapaisan, Prachaya Srivanitchapoom 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. Tremor and Other Hyperkinetic Movements. Vol.10, (2020), 1-3. doi:10.5334/tohm.68 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/59269

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Title

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

Author(s)

Jindapa Srikajon
 Yuvadee Pitakpatapee
 Chanin Limwongse
 Niphon Chirapapaisan
 Prachaya Srivanitchapoom

Other Contributor(s)

Faculty of Medicine, Siriraj Hospital, Mahidol University

Abstract

© 2020 The Author(s). 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.

Keyword(s)

Medicine

Availability

URI

https://repository.li.mahidol.ac.th/handle/20.500.14594/59269

Collections

Scopus 2020