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Dominantly-inherited adult-onset leukodystrophy with palatal tremor caused by a mutation in the glial fibrillary acidic protein gene
- Source :
- Flinders University PURE
- Publication Year :
- 2004
- Publisher :
- Wiley, 2004.
-
Abstract
- We report on a pedigree of dominantly-inherited, adult-onset Alexander disease caused by the glial fibrillary acidic protein (GFAP) gene mutation, R416W. This pedigree highlights the importance of genetic analysis of the GFAP gene in leukodystrophy with palatal tremor.
- Subjects :
- Adult
Pathology
medicine.medical_specialty
Gene Expression
Gene mutation
Biology
medicine.disease_cause
Polymerase Chain Reaction
Genetic analysis
Degenerative disease
Glial Fibrillary Acidic Protein
Tremor
medicine
Humans
Point Mutation
Gene
Genes, Dominant
Mutation
Glial fibrillary acidic protein
Leukodystrophy
Brain
medicine.disease
Magnetic Resonance Imaging
Alexander disease
Pedigree
nervous system
Neurology
biology.protein
Female
Alexander Disease
Neurology (clinical)
Palate, Soft
Subjects
Details
- ISSN :
- 15318257 and 08853185
- Volume :
- 19
- Database :
- OpenAIRE
- Journal :
- Movement Disorders
- Accession number :
- edsair.doi.dedup.....40c48cc19da7d7db5208c9452ba0f2bf