Abstract
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 [1].
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9 Mucolipidosis
Sohma O, Mizuguchi M, Takashima S, Satake A, Itoh K, Sakuraba H, Suzuki Y, Oyanagi K (1999) Expression of protective protein in human tissue. Pediatr Neurol 20:210–214.
Lyon G, Adams RD, Kolodny EH (1996) Neurology of hereditary metabolic diseases in childhood, 2nd edn. McGraw-Hill, New York, pp 132–135, 161–164.
Suzuki K, Suzuki K (2002) Lysosomal diseases. In: Graham DI, Lantos PL (eds) Greenfields’ neuropathology, 7th edn, Vol 1. Arnold, London, pp 675–679, 683–693, 699–700, 708–709.
Seyrantepe V, Poupetova H, Froissart R, Zabot MT, Maire I, Pshezhetsky AV (2003) Molecular pathology of NEU1 gene in sialidosis. Hum Mutat 22:343–352.
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(2007). Mucolipidosis. In: Pediatric Neuropathology. Springer, Tokyo. https://doi.org/10.1007/978-4-431-49898-8_9
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DOI: https://doi.org/10.1007/978-4-431-49898-8_9
Publisher Name: Springer, Tokyo
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