Phenotypic and Genotypic Variability in Niemann-Pick Type C: A Brazilian Case Series

Phenotypic and Genotypic Variability in Niemann-Pick Type C: A Brazilian Case Series

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Abstract Niemann-Pick disease type C (NPC) disease is a lysosomal storage disorder caused by alterations in the trafficking of unesterified cholesterol due to mutations in the NPC1 and NPC2 genes.Its manifestations can be visceral, neurological, and psychiatric.This study conducts a retrospective review to assess the clinical, laboratory, molecular, and imaging features of a cohort of Brazilian patients with NPC.

Eleven cases were included, 6 females and 5 males, aged between 3 and 32 years.Three cases corresponded to the early infantile form, three to the late infantile form, four to the juvenile, and one Acrylic Name Night Light to the adult form.The most frequent symptoms were splenomegaly (10/11), hepatomegaly (8/11), vertical supranuclear gaze palsy (11/11), ataxia (10/11), dysarthria (10/11), dysphagia (10/11), spasticity (7/11), epilepsy (7/11), dystonia (7/11), cognitive impairment (8/11), and school delay (8/11).

All patients exhibited non-specific Poly V Belt abnormalities in brain imaging studies.Biomarker-specific tests were positive in 9 out of 11 cases.The Filipin test was "classic" in 6 cases and "variant" in 5.

Mutations in NPC1 were identified in all patients, with the most prevalent variant being p.Ala1035Val (8/11).This case series highlights the p.

Ala1035Val mutation in NPC1 correlates with the "classic" profile of Filipin staining.