Adult‐onset Alexander disease with progressive ataxia and palatal tremor | Zendy

Howard Katherine L. | Zendy; Hall Deborah A. | Zendy; Moon Michelle | Zendy; Agarwal Pinky | Zendy; Newman Elizabeth | Zendy; Brenner Michael | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Premium

Adult‐onset Alexander disease with progressive ataxia and palatal tremor

Author(s) -

Howard Katherine L.,

Hall Deborah A.,

Moon Michelle,

Agarwal Pinky,

Newman Elizabeth,

Brenner Michael

Publication year - 2008

Publication title -

movement disorders

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.352

H-Index - 198

eISSN - 1531-8257

pISSN - 0885-3185

DOI - 10.1002/mds.21774

Subject(s) - ataxia , age of onset , medicine , glial fibrillary acidic protein , mutation , disease , degenerative disease , pediatrics , pathology , biology , genetics , gene , psychiatry , immunohistochemistry

A novel glial fibrillary acidic protein (GFAP) mutation, Y257C, is reported in a patient with adult‐onset Alexander disease. This is the oldest reported case with confirmation of a GFAP mutation. Onset was late in the sixth decade. Genetic analysis of the GFAP gene is recommended in cases of progressive ataxia and palatal tremor. © 2007 Movement Disorder Society

This content is not available in your region!

Continue researching here.

Having issues? You can contact us here

Accelerating Research