The juvenile gangliosidoses: A timeline of clinical change.

ABSTRACT:

Background

The gangliosidoses are rare inherited diseases that result in pathologic accumulation of gangliosides in the central nervous system and other tissues, leading to severe and progressive neurological impairment and early death in the childhood forms. No treatments are currently approved for the gangliosidoses, and development of treatments is impaired by limited understanding of the natural history of these diseases.

Objective

The objective of this study is to improve understanding of the juvenile gangliosidoses phenotypes and the late-infantile phenotypic subtype.

Methods

Through a prospective natural history study of subjects with juvenile GM1- and GM2-gangliosidosis, a timeline of clinical changes was developed for the classic juvenile phenotypes and the l

SUBMITTER: King KE 

PROVIDER: S-EPMC7674119 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature