Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
Por um escritor misterioso
Last updated 16 maio 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.
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR), Orphanet Journal of Rare Diseases
Laboratory diagnosis of Niemann–Pick disease type C: The filipin staining test - ScienceDirect
Necroptosis in Niemann–Pick disease, type C1: a potential therapeutic target
Infantile form of Niemann-Pick disease type C with demyelination: An uncommon feature
Central sleep apnea and daytime sleepiness in Niemann-Pick type C disease: a report of 2 cases
Complex lipid trafficking in Niemann‐Pick disease type C - Vanier - 2015 - Journal of Inherited Metabolic Disease - Wiley Online Library
Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization
Recommendations for the detection and diagnosis of Niemann-Pick disease type C
IJMS, Free Full-Text
Frontiers Adult-Onset Niemann–Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
Recomendado para você
-
Niemann-Pick tipo C - Blog Mendelics16 maio 2024
-
Parents of kids with Niemann Pick C advocate for adrabetadex16 maio 2024
-
Potential treatment for Niemann-Pick type C, a rare neurodegenerative disease16 maio 2024
-
5 Most Promising Companies offering hope to patients with Niemann-Pick Type C16 maio 2024
-
IJMS, Free Full-Text16 maio 2024
-
PDF] Oxidative Stress: A Pathogenic Mechanism for Niemann-Pick Type C Disease16 maio 2024
-
A hopeful therapy for Niemann-Pick C diseases - The Lancet16 maio 2024
-
Niemann–Pick type C Mnemonic16 maio 2024
-
Niemann–Pick disease, type C - Wikipedia16 maio 2024
-
Walgreen's Support Allows Our Twins with Niemann Pick Type C To Receive Cyclodextrin Treatments At Home16 maio 2024
você pode gostar
-
FNaFAssetSeeking on X: FNaF 4 Fun Fact! Trees behind the window In FNaF 4 the trees that appear behind the window in plushtraps hallway are the same trees Scott used in16 maio 2024
-
My Art Book - Kotoura-san!!! - Wattpad16 maio 2024
-
How to Get Better Aim in Fortnite and Hit More Shots - Kr4m16 maio 2024
-
Miraculous Ladybug Season 5 Episode 14 Derision Script16 maio 2024
-
▷ 7 Melhores jogos de basquete para Android16 maio 2024
-
Top 19 Similar websites like voxskins.com and alternatives16 maio 2024
-
15 Melhores jogos PS4 e mais icônicos dessa geração16 maio 2024
-
Nomes Japoneses dos Pokémon – Parte 6 (138 – 151) – The Kingdom of Zeal16 maio 2024
-
Gregory van der Wiel ADMITS contact as Man Utd weigh up swap deal for Angel Di Maria, Football, Sport16 maio 2024
-
mapa de neve do subway surf16 maio 2024