Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis

Fernanda Sperb, Filippo Vairo, Maira Burin, Fabiana Quoos Mayer, Ursula Matte, Roberto Giugliani

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


GM1 gangliosidosis is a lysosomal disorder caused by β-galactosidase deficiency due to mutations in the GLB1 gene. It is a rare neurodegenerative disorder with an incidence of about 1:100,000-1:200,000 live births worldwide. Here we review GLB1 mutations and clinical features from 65 Brazilian GM1 gangliosidosis patients. Molecular analysis showed 17 different mutations and c.1622-1627insG was the most frequent, accounting for 50% of the alleles. Cognitive impairment was the main clinical sign, observed in 82% of patients, followed by hepatosplenomegaly observed in 56% of patients. It was possible to establish a significant correlation between age at onset of symptoms preceding the first year of life and the presence of the mutation c.1622-1627insG (p= 0.03). Overall our findings differ from literature and represent the exclusive genotypic profile found in Brazilian GM1 gangliosidosis patients.

Original languageEnglish (US)
Pages (from-to)113-116
Number of pages4
Issue number1
StatePublished - Jan 1 2013


  • Clinical features
  • GLB1 gene
  • GM1 gangliosidosis
  • Mutation analysis
  • β-galactosidase

ASJC Scopus subject areas

  • Genetics


Dive into the research topics of 'Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis'. Together they form a unique fingerprint.

Cite this