Abstract
GM2 gangliosidosis are caused by a 3-hexosaminidase A enzyme deficiency. Mutations in the gene leaving residual enzyme activity give rise to juvenile and adult forms of the disease which have a great clinical heterogeneity, We report three cases which have been considered for some time as Kugelberg-Welander disease. β-hexosaminidase A was determined with the sulfated synthetic substrate, 4-methylumbelliferyl-N-acetylglucosamine 6-sulfate (4-MUGS), which allowed the diagnosis. Two of these cases from one family had normal values of hexosaminidase A in serum as found in the B1 variant. Compound mutations were detected. The B1 variants had a classical B1 mutation (G 533 → A) and a new mutation located on exon 11. The patient of the second family had the classical mutation of adult GM2 gangliosidosis (Gly 269 → Ser) and a new mutation on exon 1, at the initiation codon.
Translated title of the contribution | Juvenile GM2 gangliosidosis with progressive spinal muscular atrophy onset |
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Original language | French |
Pages (from-to) | 120-123 |
Number of pages | 4 |
Journal | Revue Neurologique |
Volume | 153 |
Issue number | 2 |
State | Published - Mar 1997 |
Externally published | Yes |