Mutation analysis of GM1 gangliosidosis in a Siamese cat from Japan in the 1960s.

[gm1 gangliosidosis]

GM 1 gangliosidosis is a fatal , progressive neurodegenerative lysosomal storage disease caused by mutations of the β-galactosidase (GLB 1 ) gene . In feline GM 1 gangliosidosis , a pathogenic mutation (c .1448 G >C ) of the feline GLB 1 gene was identified in Siamese and Korat cats previously diagnosed with the disease in the USA and Italy , respectively . The present study demonstrated the same mutation in a Siamese cat that had been diagnosed with GM 1 gangliosidosis in Japan in the 1960 s . The mutation was confirmed using DNA extracted from stored paraffin-embedded brain tissue by a direct sequencing method and a polymerase chain reaction-restriction fragment length polymorphism assay . This pathogenic mutation seems to have been distributed around the world .

Diseases
Validation

Diseases presenting "brain tissue" symptom

22q11.2 deletion syndrome

alexander disease

cadasil

classical phenylketonuria

congenital toxoplasmosis

gm1 gangliosidosis

hereditary cerebral hemorrhage with amyloidosis

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

phenylketonuria

pyruvate dehydrogenase deficiency

sneddon syndrome

wolf-hirschhorn syndrome

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