Two cases of early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay diagnosed in adulthood

Clin Neurol Neurosurg. 2021 Feb:201:106423. doi: 10.1016/j.clineuro.2020.106423. Epub 2020 Dec 8.

Authors

Turgut Sahin¹, Fatma Tugra Karaarslan², Rezzak Yilmaz², Şeyma Tekgül³, Ayşe Nazlı Başak³, Muhittin Cenk Akbostanci²

Affiliations

¹ Ankara University, Faculty of Medicine, Talatpasa Street 82 Altindag, 06310, Ankara, Turkey. Electronic address: turgutsahin@ankara.edu.tr.
² Ankara University, Faculty of Medicine, Talatpasa Street 82 Altindag, 06310, Ankara, Turkey.
³ Koç University, School of Medicine, KUTTAM-NDAL, 34010 Topkapı, Istanbul, Turkey.

PMID: 33348119
DOI: 10.1016/j.clineuro.2020.106423

No abstract available

Keywords: ARSACS; Autosomal recessive spastic ataxia; Whole-exome sequencing.

Publication types

Case Reports

MeSH terms

Adult
Brain / pathology
Humans
Intellectual Disability / diagnosis
Intellectual Disability / genetics
Intellectual Disability / pathology*
Male
Muscle Spasticity / diagnosis
Muscle Spasticity / genetics*
Muscle Spasticity / pathology*
Mutation / genetics*
Optic Atrophy / diagnosis
Optic Atrophy / genetics
Optic Atrophy / pathology*
Pedigree
Spinocerebellar Ataxias / congenital*
Spinocerebellar Ataxias / diagnosis
Spinocerebellar Ataxias / genetics
Spinocerebellar Ataxias / pathology

Supplementary concepts

Spastic Ataxia
Spastic ataxia Charlevoix-Saguenay type