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: A Japanese family with early-onset ataxia with motor and sensory neuropathy.
    Author: Kobayashi S, Takuma H, Murayama S, Sakurai M, Kanazawa I.
    Journal: J Neurol Sci; 2007 Mar 15; 254(1-2):44-8. PubMed ID: 17258771.
    Abstract:
    We report the case of a Japanese family with hereditary ataxia with peripheral neuropathy. Three affected siblings from this family exhibited very similar clinical features: teenage-onset, slowly progressive ataxia, followed by distal weakness, which developed after the age of 30 years. Magnetic resonance imaging studies showed marked atrophy in the cerebellar hemisphere and vermis, and a sural nerve biopsy revealed a marked reduction in the number of both myelinated and unmyelinated fibers. All patients exhibited hyperglutamatemia, but serum levels of albumin and lipid were normal. The clinicopathological and biochemical features of these cases suggest that they form a distinct entity of autosomal recessive hereditary ataxia with peripheral neuropathy.
    [Abstract] [Full Text] [Related] [New Search]