View in EDS

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
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 41923236
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Six novel SACS mutations expand the autosomal recessive spastic ataxia of Charlevoix-Saguenay spectrum.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Ikenoshita+S%22">Ikenoshita S</searchLink>; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan. s.ikenoshita1986@gmail.com.<br /><searchLink fieldCode="AU" term="%22Nomura+T%22">Nomura T</searchLink>; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan.<br /><searchLink fieldCode="AU" term="%22Shimazaki+H%22">Shimazaki H</searchLink>; Faculty of Health & Medical Care, Saitama Medical University, Saitama, 350-1241, Japan.; Department of Neurology, Jichi Medical University, Tochigi, 329-0498, Japan.<br /><searchLink fieldCode="AU" term="%22Uetani+H%22">Uetani H</searchLink>; Department of Diagnostic Radiology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, 860-0811, Japan.<br /><searchLink fieldCode="AU" term="%22Nakahara+K%22">Nakahara K</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Okazaki+T%22">Okazaki T</searchLink>; Department of Neurology, Kumamoto General Hospital, Yatsushiro, 866-8660, Japan.<br /><searchLink fieldCode="AU" term="%22Imamura+M%22">Imamura M</searchLink>; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan.<br /><searchLink fieldCode="AU" term="%22Mizutani+H%22">Mizutani H</searchLink>; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan.<br /><searchLink fieldCode="AU" term="%22Fudo+A%22">Fudo A</searchLink>; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan.<br /><searchLink fieldCode="AU" term="%22Jo+Y%22">Jo Y</searchLink>; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan.<br /><searchLink fieldCode="AU" term="%22Matsubara+S%22">Matsubara S</searchLink>; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan.<br /><searchLink fieldCode="AU" term="%22Higuchi+Y%22">Higuchi Y</searchLink>; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, 890-8520, Japan.<br /><searchLink fieldCode="AU" term="%22Hirai+T%22">Hirai T</searchLink>; Department of Diagnostic Radiology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, 860-0811, Japan.<br /><searchLink fieldCode="AU" term="%22Takashima+H%22">Takashima H</searchLink>; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, 890-8520, Japan.<br /><searchLink fieldCode="AU" term="%22Ueda+M%22">Ueda M</searchLink>; 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.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2026 Apr 01; Vol. 21 (1). <i>Date of Electronic Publication: </i>2026 Apr 01.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE; In Process
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41923236
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s13023-026-04337-y
    Languages:
      – Code: eng
        Text: English
    Titles:
      – TitleFull: Six novel SACS mutations expand the autosomal recessive spastic ataxia of Charlevoix-Saguenay spectrum.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Ikenoshita S
      – PersonEntity:
          Name:
            NameFull: Nomura T
      – PersonEntity:
          Name:
            NameFull: Shimazaki H
      – PersonEntity:
          Name:
            NameFull: Uetani H
      – PersonEntity:
          Name:
            NameFull: Nakahara K
      – PersonEntity:
          Name:
            NameFull: Okazaki T
      – PersonEntity:
          Name:
            NameFull: Imamura M
      – PersonEntity:
          Name:
            NameFull: Mizutani H
      – PersonEntity:
          Name:
            NameFull: Fudo A
      – PersonEntity:
          Name:
            NameFull: Jo Y
      – PersonEntity:
          Name:
            NameFull: Matsubara S
      – PersonEntity:
          Name:
            NameFull: Higuchi Y
      – PersonEntity:
          Name:
            NameFull: Hirai T
      – PersonEntity:
          Name:
            NameFull: Takashima H
      – PersonEntity:
          Name:
            NameFull: Ueda M
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 04
              Text: 2026 Apr 01
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1750-1172
          Numbering:
            – Type: volume
              Value: 21
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Orphanet journal of rare diseases
              Type: main
ResultId 1