Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.

ABSTRACT:

Background

Type II or juvenile GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder, which is clinically distinct from infantile form of the disease by the lack of characteristic cherry-red spot and hepatosplenomegaly. The disease is characterized by slowly progressive neurodegeneration and mild skeletal changes. Due to the later age of onset and uncharacteristic presentation, diagnosis is frequently puzzled with other ataxic and purely neurological disorders. Up to now, 3-4 types of GM1-gangliosidosis have been reported and among them type I is the most common phenotype with the age of onset around 6 months. Various forms of GM1-gangliosidosis are caused by GLB1 gene mutations but severity of the disease and age of onset are directly related to the position and

SUBMITTER: Karimzadeh P 

PROVIDER: S-EPMC5513107 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature