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 SrikajonYuvadee PitakpatapeeChanin LimwongseNiphon ChirapapaisanPrachaya SrivanitchapoomFaculty of Medicine, Siriraj Hospital, Mahidol University2020-10-052020-10-052020-01-01Tremor and Other Hyperkinetic Movements. Vol.10, (2020), 1-3216082882-s2.0-85089333012https://repository.li.mahidol.ac.th/handle/20.500.14594/59269© 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.Mahidol UniversityMedicineAutosomal 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 geneArticleSCOPUS10.5334/tohm.68