Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.

ABSTRACT:

Background

Niemann-Pick disease type C (NP-C) is a neurodegenerative lysosomal lipid storage disease caused by autosomal recessive mutations in the NPC1 or NPC2 genes. The clinical presentation and evolution of NP-C and the effect of miglustat treatment are described in the largest cohort of patients with adolescent/adult-onset NP-C studied to date.

Methods

Observational study based on clinical chart data from adult patients with NP-C (> 18 year old) diagnosed in France between 1990 and 2015. Retrospective data from patients at diagnosis, onset of miglustat therapy (if applicable), and last follow up were analysed.

Results

In France, patients with an adolescent-adult neurological form constituted approximately 25% of all NP-C cases diagnosed during the study period. F

SUBMITTER: Nadjar Y 

PROVIDER: S-EPMC6167825 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature