Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
Por um escritor misterioso
Last updated 21 setembro 2024
Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of 1/120 000 live births. The broad clinical spectrum ranges from a neonatal rapidly fatal disorder to an adult-onset chronic neurodegenerative disease. The neurological involvement defines the disease severity in most patients but is typically preceded by systemic signs (cholestatic jaundice in the neonatal period or isolated spleno- or hepatosplenomegaly in infancy or childhood). The first neurological symptoms vary with age of onset: delay in developmental motor milestones (early infantile period), gait problems, falls, clumsiness, cataplexy, school problems (late infantile and juvenile period), and ataxia not unfrequently following initial psychiatric disturbances (adult form). The most characteristic sign is vertical supranuclear gaze palsy. The neurological disorder consists mainly of cerebellar ataxia, dysarthria, dysphagia, and progressive dementia. Cataplexy, seizures and dystonia are other common features. NP-C is transmitted in an autosomal recessive manner and is caused by mutations of either the NPC1 (95% of families) or the NPC2 genes. The exact functions of the NPC1 and NPC2 proteins are still unclear. NP-C is currently described as a cellular cholesterol trafficking defect but in the brain, the prominently stored lipids are gangliosides. Clinical examination should include comprehensive neurological and ophthalmological evaluations. The primary laboratory diagnosis requires living skin fibroblasts to demonstrate accumulation of unesterified cholesterol in perinuclear vesicles (lysosomes) after staining with filipin. Pronounced abnormalities are observed in about 80% of the cases, mild to moderate alterations in the remainder ("variant" biochemical phenotype). Genotyping of patients is useful to confirm the diagnosis in the latter patients and essential for future prenatal diagnosis. The differential diagnosis may include other lipidoses; idiopathic neonatal hepatitis and other causes of cholestatic icterus should be considered in neonates, and conditions with cerebellar ataxia, dystonia, cataplexy and supranuclear gaze palsy in older children and adults. Symptomatic management of patients is crucial. A first product, miglustat, has been granted marketing authorization in Europe and several other countries for specific treatment of the neurological manifestations. The prognosis largely correlates with the age at onset of the neurological manifestations.
Adult‐onset Niemann–Pick disease type C masquerading as spinocerebellar ataxia - Vo - 2022 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial - The Lancet
Recommendations for the detection and diagnosis of Niemann-Pick disease type C
Mitochondrial G8292A and C8794T mutations in patients with Niemann‑Pick disease type C Corrigendum in /10.3892/br.2018.1156
IJMS, Free Full-Text
Niemann-Pick type C: contemporary diagnosis and treatment of a classical disorder
Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat, Orphanet Journal of Rare Diseases
Niemann–Pick Disease Type C
Fig 1., Subcortical Volumetric Reductions in Adult Niemann-Pick Disease Type C: A Cross-Sectional Study
Recomendado para você
-
Parents of kids with Niemann Pick C advocate for adrabetadex21 setembro 2024
-
Rare Disease Video - Niemann-Pick Disease Types A & B - National Organization for Rare Disorders21 setembro 2024
-
What You See and What You Don't: Diagnosing Niemann Pick, Type C - Complex Child21 setembro 2024
-
Niemann–Pick disease - Wikipedia21 setembro 2024
-
Diagnostic workup and management of patients with suspected Niemann-Pick type C disease - Apostolos Papandreou, Paul Gissen, 201621 setembro 2024
-
Psychiatric and Cognitive Symptoms Associated with Niemann-Pick Type C Disease: Neurobiology and Management21 setembro 2024
-
Terapia Génica para Niemann Pick tipo C - Grupo Teaming21 setembro 2024
-
O Portal da Uol publicou - Associação Niemann-Pick Brasil21 setembro 2024
-
Niemann-Pick Disease Type C Archives - The Children's Inn at NIH21 setembro 2024
-
niemann pick type c|TikTok Search21 setembro 2024
você pode gostar
-
assets1.ignimgs.com/thumbs/userUploaded/2019/11/2621 setembro 2024
-
Poster Love Japonês Kanji Symbol21 setembro 2024
-
Westlife's 'Spectrum' Tops UK Albums Chart21 setembro 2024
-
Ninboys on X: Dizem que nintendista gosta de exclusivo, é verdade? imagem feita por nós com todos os exclusivos do Nintendo Switch, não estão os console exclusive, como MH Stories 2, nem21 setembro 2024
-
Rappers React To TOOL Jambi!!!21 setembro 2024
-
Highschool DxD: ¿Se anunciará algún día la Temporada 5 de su anime?21 setembro 2024
-
Grandista Uchiha Sasuke #2 (Manga Dimensions) Naruto Statue21 setembro 2024
-
fotos da luluca 2022|Pesquisa do TikTok21 setembro 2024
-
Zezé di Camargo admite traição à Zilu e revela real motivo do21 setembro 2024
-
Red Dead Redemption 2: Como encontrar o Tesouro da Trilha Venenosa21 setembro 2024