Galactosialidosis (α-neuraminidase deficiency + galactosidase deficiency with defective protective protein) has congenital (severe resembling sialidosis type 2), infantile (mild), and juvenile-adult forms. There are dysmorphic features, hepatosplenomegaly, psychomotor retardation, macular cherry-red spots, and myoclonus. There is cytoplasmic vacuolization of many cell types. Rare brain reports suggest atrophy and neuronal loss in optic nerves, thalamus, globus pallidus, brain stem, and cerebellum with neuronal storage in Betz cells, basal forebrain, cranial nerve nuclei, anterior horns, and ganglia. Electron microscopy (EM) shows variable shapes of storage material. The disorder is caused by a defective “protective protein” encoded on chromosome 20q13.1 and a resulting deficiency of β-galactosidase and α-neuraminidase .
KeywordsHeparan Sulfate Anterior Horn Cerebral White Matter Cytoplasmic Vacuolization Protective Protein
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