Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.

ABSTRACT:

Background

The neurodegenerative lysosomal storage disorder Niemann-Pick disease type C (NP-C) is characterized by a broad clinical variability involving neurological, psychiatric and systemic signs. Diverse patterns of disease manifestation and progression considerably delay its diagnosis. Here we introduce the NP-C clinical database (NPC-cdb) to systematically obtain, store and analyze diagnostic and clinical findings in patients with NP-C. We apply NPC-cdb to study NP-C temporal expression in a large German-Swiss patient cohort.

Methods

Current and past medical history was systematically acquired from 42 patients using tailored questionnaires. Manifestation of 72 distinct neuropsychiatric signs was modeled over the course of disease. The sequence of disease progression wa

SUBMITTER: Stampfer M 

PROVIDER: S-EPMC3649939 | biostudies-literature | 2013 Feb

REPOSITORIES: biostudies-literature