Characterization of central manifestations in patients with Niemann-Pick disease type C.

ABSTRACT:

Purpose

Niemann-Pick disease type C (NPC) is a rare lysosomal storage disease characterized by progressive neurodegeneration and neuropsychiatric symptoms. This study investigated pathophysiological mechanisms underlying motor deficits, particularly speech production, and cognitive impairment.

Methods

We prospectively phenotyped 8 adults with NPC and age-sex-matched healthy controls using a comprehensive assessment battery, encompassing clinical presentation, plasma biomarkers, hand-motor skills, speech production, cognitive tasks, and (micro-)structural and functional central nervous system properties through magnetic resonance imaging.

Results

Patients with NPC demonstrated deficits in fine-motor skills, speech production timing and coordination, and cognitive perfo

SUBMITTER: van Gool R 

PROVIDER: S-EPMC11995604 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature