These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan.
    Author: Hara K, Onodera O, Endo M, Kondo H, Shiota H, Miki K, Tanimoto N, Kimura T, Nishizawa M.
    Journal: Mov Disord; 2005 Mar; 20(3):380-2. PubMed ID: 15486997.
    Abstract:
    Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) has been described in the Quebec region and in Tunisia. We report on two Japanese siblings with a new homozygous mutation (6543 del A) of the SACS gene. Compared with previously reported ARSACS patients, both of these patients had a unique phenotype characterized by dementia, ophthalmoplegia, and the absence of prominent retinal myelinated fibers.
    [Abstract] [Full Text] [Related] [New Search]