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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease Neurol 77:1287-1294, Prust, M.,et al, 2011 See this aricle in Pubmed Article Abstract AAO and the GFAP mutation site are important clinical predictors in AxD, with clear correlations to defined patterns of phenotypic expression. We propose revised AxD subtypes, type I and type II, based on analysis of statistically defined patient groups.

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(click to filter results - removes previous filter) Alexanders disease Alexanders disease,adult onset astrogliopathy ataxia autonomic dysfunction bulbar palsy developmental retardation encephalopathy eye movement,disorders of failure to thrive gene gene mutation GFAP gene hyperreflexia macrocephaly mortality MRI,abnormal palatal myoclonus paraparesis paroxysmal neurologic deficits prognosis seizure

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