Abstract |
We report a new family with palatal myoclonus, pyramidal tract signs, cerebellar signs, marked atrophy of the medulla oblongata and spinal cord, and autosomal dominant inheritance. These findings were almost identical with those in patients previously reported to have histopathologically confirmed adult-onset Alexander disease. Recently, heterozygous point mutations in the coding region of glial fibrillary acidic protein (GFAP) in patients with an infantile form of Alexander disease have been reported. We found a new heterozygous amino acid substitution, Val87Gly in exon 1 of GFAP, in the affected individuals in this family but not in 100 spinocerebellar ataxia (SCA) patients and 100 controls. Therefore, this family might have new clinical entities related to adult-onset Alexander disease and GFAP mutation.
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Authors | Yuji Okamoto, Hideo Mitsuyama, Manabu Jonosono, Keiko Hirata, Kimiyoshi Arimura, Mitsuhiro Osame, Masanori Nakagawa |
Journal | Journal of the neurological sciences
(J Neurol Sci)
Vol. 195
Issue 1
Pg. 71-6
(Mar 15 2002)
ISSN: 0022-510X [Print] Netherlands |
PMID | 11867077
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Glial Fibrillary Acidic Protein
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Topics |
- Amino Acid Substitution
- Atrophy
- Base Sequence
(genetics)
- Female
- Genes, Dominant
- Glial Fibrillary Acidic Protein
(genetics)
- Heterozygote
- Humans
- Middle Aged
- Molecular Sequence Data
- Myoclonus
(genetics, pathology)
- Pedigree
- Reference Values
- Spinal Cord
(pathology)
- Spinocerebellar Ataxias
(genetics)
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