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Clinical and genetic variations in the syndrome of adult GM 2 gangliodosis resulting from hexosaminidase a deficiency
Author(s) -
Argov Z.,
Navon R.
Publication year - 1984
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410160105
Subject(s) - gangliosidosis , hexosaminidase , psychosis , phenotype , medicine , pediatrics , psychology , genetics , biology , psychiatry , enzyme , biochemistry , gene , disease
Six patients from three families developed adult GM 2 gangliosidosis resulting from severe β‐hexosaminidase A deficiency. The clinical picture varied between and within families and included spinocerebellar, various motor neuron, and cerebellar connection syndromes. Psychosis appeared in each family. Involvement of three generations was recorded in one family. The phenotype of adult GM 2 gangliosidosis is variable and cannot form a basis for genetic classification. Detailed hexosaminidase determinations in eight patients from five families revealed all patients to have minor quantities of hexosaminidase A (about 15% of normal), with marked increase in hexosaminidase I isozyme.