Article
Clinical, ocular motor, and imaging profile of Niemann-Pick type C heterozygosity.
Neurology - 21 Apr 2020
Bremova-Ertl Tatiana, Sztatecsny Clara, Brendel Matthias, Moser Marlene, Möller Bettina, Clevert Dirk A, Beck-Wödl Stefanie, Kun-Rodrigues Celia, Bras Jose, Rominger Axel, Ninov Dimitar, Strupp Michael, Schneider Susanne A
Abstract excerpt
OBJECTIVE: To characterize subclinical abnormalities in asymptomatic heterozygote NPC1 mutation carriers as markers of neurodegeneration. METHODS: Motor function, cognition, mood, sleep, and smell function were assessed in 20 first-degree heterozygous relatives of patients with Niemann-Pick disease type C (NPC) (13 male, age 52.7 ± 9.9 years). Video-oculography and abdominal ultrasound with volumetry were...
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