Gangliosidose a GM2 juvenile debutant par une amyotrophie spinale progressive

Translated title of the contribution: Juvenile GM2 gangliosidosis with progressive spinal muscular atrophy onset

P. Rondot*, R. Navon, B. Eymard, M. Fardeau, J. C. Turpin, M. Lefevre, N. Bathien, Y. Wu, N. Baumann

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


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 contributionJuvenile GM2 gangliosidosis with progressive spinal muscular atrophy onset
Original languageFrench
Pages (from-to)120-123
Number of pages4
JournalRevue Neurologique
Issue number2
StatePublished - Mar 1997
Externally publishedYes


Dive into the research topics of 'Juvenile GM2 gangliosidosis with progressive spinal muscular atrophy onset'. Together they form a unique fingerprint.

Cite this