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Article

Adult-onset Alexander disease with progressive ataxia and palatal tremor.

Movement disorders : official journal of the Movement Disorder Society - 1 Jan 2008

Howard Katherine L, Hall Deborah A, Moon Michelle, Agarwal Pinky, Newman Elizabeth, Brenner Michael

Abstract excerpt

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.

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Source

Identifiers

PMID: 17960815
DOI: 10.1002/mds.21774

Genes

GFAP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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