Six novel SACS mutations expand the autosomal recessive spastic ataxia of Charlevoix-Saguenay spectrum.

Saved in:
Bibliographic Details
Title: Six novel SACS mutations expand the autosomal recessive spastic ataxia of Charlevoix-Saguenay spectrum.
Authors: Ikenoshita S; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan. s.ikenoshita1986@gmail.com., Nomura T; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan., Shimazaki H; Faculty of Health & Medical Care, Saitama Medical University, Saitama, 350-1241, Japan.; Department of Neurology, Jichi Medical University, Tochigi, 329-0498, Japan., Uetani H; Department of Diagnostic Radiology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, 860-0811, Japan., Nakahara K; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan.; Intractable Neurological Diseases Center, Kumamoto University Hospital, Kumamoto, 860-0811, Japan., Okazaki T; Department of Neurology, Kumamoto General Hospital, Yatsushiro, 866-8660, Japan., Imamura M; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan., Mizutani H; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan., Fudo A; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan., Jo Y; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan., Matsubara S; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan., Higuchi Y; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, 890-8520, Japan., Hirai T; Department of Diagnostic Radiology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, 860-0811, Japan., Takashima H; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, 890-8520, Japan., Ueda M; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan.; Intractable Neurological Diseases Center, Kumamoto University Hospital, Kumamoto, 860-0811, Japan.
Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 Apr 01; Vol. 21 (1). Date of Electronic Publication: 2026 Apr 01.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE; In Process
Database: MEDLINE Ultimate
Description
ISSN:1750-1172
DOI:10.1186/s13023-026-04337-y