Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

ABSTRACT:

Background

Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different therapeutic agents are under development, and clinical evaluation of drug candidates will require a standardized score of cerebellar dysfunction. We aim to assess the validity of the International Cooperative Ataxia Rating Scale (ICARS) in children and adolescents with genetically confirmed PMM2-CDG deficiency. We compare ICARS results with the Nijmegen Pediatric CDG Rating Scale (NPCRS), neuroimaging, intelligence quotient (IQ) and molecular data.

Methods

Our observational study

SUBMITTER: Serrano M 

PROVIDER: S-EPMC4623922 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature