Autosomal dominant palatal myoclonus and spinal cord atrophy.
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.
Okamoto
Yuji
Y
Third Department of Internal Medicine, Kagoshima University Faculty of Medicine, 8-35-1 Sakuragaoka, Kagoshima 890-8520, Kagoshima City, Japan.
Mitsuyama
Hideo
H
Jonosono
Manabu
M
Hirata
Keiko
K
Arimura
Kimiyoshi
K
Osame
Mitsuhiro
M
Nakagawa
Masanori
M
D019943:Amino Acid Substitution; D001284:Atrophy; D001483:Base Sequence / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009207:Myoclonus / Q000235:genetics* / Q000473:pathology*; D010375:Pedigree; D012016:Reference Values; D013116:Spinal Cord / Q000473:pathology*; D020754:Spinocerebellar Ataxias / Q000235:genetics
D005904:Glial Fibrillary Acidic Protein