@article{oai:niigata-u.repo.nii.ac.jp:00024386,
 author = {西澤, 正豊},
 issue = {12},
 journal = {新潟医学会雑誌, 新潟医学会雑誌},
 month = {Dec},
 note = {A deficiency of lysosomal sialidase has recently been identified among a group of disorders which had been classified clinically as Ramsay Hunt syndrome, or myoclonic epilepsy. Biochemically, they were separated into two groups: isolated sialidase deficiency and galactosialidosis（sialidosis with partial β-galactosidase deficiency）. Galactosialidosis is a hereditary disorder of juvenile onset, inherited as an autosomal recessive trait. Most of the cases are Japanese. Characteristic clinical features consist of mild dementia, cherry-red spot, myoclonus, cerebellar ataxia, convulsive seizures, angiokeratoma, and vertebral dysplasia. There has been found combined deficiency of lysosomal β-galactosidase and sialidase. Urinary excretion of sialyloligosaceharides is markedly increased. The molecular defect of the disease has been extensively studied by Galjaard et al. According to them, a glycoprotein of Mr. 32 kDa, which is necessary for β-galactosidase monomer to be stabilized by making stable polymer, is defective in galactosialidosis, resulting in rapid degradation of β-galactosidase monomer by lysosomal proteases. On the other hand, Miyatake et al. have examined the subcellular distribution of sialidases and found that sialidase, localized in lysosome fraction and specific for sialyloligosaccharides, is deficient in lymphocytes obtained from galactogialidosis patients. The precise molecular mechanism of sialidase deficiency in this disease remains to be clarified.},
 pages = {745--750},
 title = {7) シアリドーシスの臨床と生化学(シンポジウム 遺伝性脊髄小脳変性症 : 最近の知見から, 第417回新潟医学会)},
 volume = {100},
 year = {1986}
}