GM1 gangliosidosis type II: Results of a 10-year prospective study.

ABSTRACT:

Purpose

GM1 gangliosidosis (GM1) a lysosomal disorder caused by pathogenic variants in GLB1, is characterized by relentless neurodegeneration. There are no approved treatments.

Methods

Forty-one individuals with type II (late-infantile and juvenile) GM1 participated in a single-site prospective observational study.

Results

Classification of 37 distinct variants using American College of Medical Genetics and Genomics criteria resulted in the upgrade of 6 and the submission of 4 new variants. In contrast to type I infantile disease, children with type II had normal or near normal hearing and did not have cherry-red maculae or hepatosplenomegaly. Some older children with juvenile onset disease developed thickened aortic and/or mitral valves. Serial magnetic resonance ima

SUBMITTER: D'Souza P 

PROVIDER: S-EPMC11348282 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature