Niemann-Pick disease type C: introduction and main clinical features.

A Burlina

doi:10.1007/s00415-014-7382-z

Abstract

Niemann-Pick disease type C: introduction and main clinical features.

Highlights

Niemann–Pick disease type C: introduction and main clinical features A
Niemann–Pick type C (NP-C) is a rare neurodegenerative lysosomal storage disorder with autosomal recessive inheritance that can present during infancy, childhood or adulthood [4, 5, 9]
The true prevalence of NP-C is difficult to measure, but it has been estimated at 1 case in every 120,000 live births [9]

Summary

Introduction

Niemann–Pick disease type C: introduction and main clinical features A. After recording a detailed medical history, and comprehensive clinical and neurological examinations, laboratory diagnostic processes necessary to confirm a diagnosis of NP-C include histological staining with filipin and NPC1 and NPC2 gene sequencing.

Results

Conclusion