Clinical and genetic variations in the syndrome of adult GM2 gangliodosis resulting from hexosaminidase a deficiency

Z. Argov, R. Navon

Research output: Contribution to journalArticlepeer-review

Abstract

Six patients from three families developed adult GM2 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 GM2 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.

Original languageEnglish
Pages (from-to)14-20
Number of pages7
JournalAnnals of Neurology
Volume16
Issue number1
DOIs
StatePublished - Jul 1984

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