Adult GM 2 gangliosidosis in association with Tay‐Sachs disease
- 1 November 1981
- journal article
- research article
- Published by Wolters Kluwer Health in Neurology
- Vol. 31 (11), 1397
- https://doi.org/10.1212/wnl.31.11.1397
Abstract
Four members of a family had an adult form of hexosaminidase A deficiency. The clinical picture was predominated by selective proximal muscle weakness in the legs and stuttering speech. Two of these patients had children with Tay-Sachs disease.This publication has 4 references indexed in Scilit:
- Segregation within a family of two mutant alleles for hexosaminidase AClinical Genetics, 2008
- Spinocerebellar degenerationNeurology, 1979
- CHARACTERIZATION OF UNUSUAL HEXOSAMINIDASE-A (HEX-A) DEFICIENT HUMAN MUTANTS1978
- A new juvenile hexosaminidase deficiency disease presenting as cerebellar ataxiaNeurology, 1977