Phenotypical spectrum of <i>SACS</i> variants: Neuromuscular perspective of a complex neurodegenerative disorder-Reference-Cited by-同舟云学术

Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder

Published:2022-02-07 Issue:5 Volume:145 Page:619-626
ISSN:0001-6314
Container-title:Acta Neurologica Scandinavica
language:en
Short-container-title:Acta Neuro Scandinavica

Author:

Çakar Arman¹^ORCID,İnci Meltem¹,Özdağ Acarlı Ayşe Nur¹,Çomu Sinan²,Candayan Ayşe³,Battaloğlu Esra³,Tekgül Şeyma⁴,Başak Ayşe Nazlı⁴,Durmuş Hacer¹,Parman Yeşim¹

Affiliation:

1. Neuromuscular Unit Department of Neurology Istanbul Faculty of Medicine Istanbul University Istanbul Turkey

2. Department of Pediatrics Division of Pediatric Neurology Sisli, Memorial Hospital Istanbul Turkey

3. Department of Molecular Biology and Genetics Bogazici University Istanbul Turkey

4. Suna and Inan Kıraç Foundation Neurodegeneration Research Laboratory KUTTAM Koc University School of Medicine Istanbul Turkey

Publisher

Hindawi Limited

Subject

Neurology (clinical),Neurology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ane.13592

Reference23 articles.

1. ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

2. The Neuropathy of Charlevoix-Saguenay Ataxia: An Electrophysiological and Pathological Study

3. Mutations in SACS cause atypical and late-onset forms of ARSACS

4. Novel mutation ofSACSgene in a Spanish family with autosomal recessive spastic ataxia

5. Phenotypic Features and Genetic Findings in Sacsin-Related Autosomal Recessive Ataxia in Tunisia

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1. A juvenile-onset case of autosomal recessive spastic ataxia of charlevoix–saguenay with a novel mutation in the SACS gene;Annals of Movement Disorders;2023-01

2. Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome;Orphanet Journal of Rare Diseases;2022-10-01