Screening for Niemann-Pick Type C Disease in a Memory Clinic Cohort.

ABSTRACT: Niemann-Pick type C disease (NPC) is a neurovisceral lysosomal storage disorder with a heterogeneous phenotype including ataxia, cognitive impairment, impairment of vertical saccades, and psychiatric symptoms, among many others. Based on clinical, genetic, and biomarker findings, recent guidelines put forward a screening for atypical and oligosymptomatic forms of NPC in clinical niches with an increased risk. Here, we report methods and results of a negative screening study in the niche of a memory clinic. We retrospectively and prospectively identified 83 patients with unclassified cognitive impairment (15 dementia, 46 mild cognitive impairment, and 22 progressive subjective cognitive decline) before 60 years of age (82 patients between 41 and 60 years). We explored the prevalence of clin

SUBMITTER: Traschutz A 

PROVIDER: S-EPMC6323013 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature