Adult onset Niemann-Pick disease type C presenting with psychosis
Por um escritor misterioso
Last updated 19 novembro 2024
Niemann-Pick disease type C (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various movement disorders (ataxia, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and seizures. A recent case report demonstrated a delay in diagnosis of eight years when a patient with NPC presented with psychosis. This article reviewed all cases seen at the Mayo Clinic with a possible diagnosis of NPC between 1976 and 2000. Of the 52 possible cases, five had an established diagnosis of adult onset NPC. Of these, two presented with psychosis and were not diagnosed with NPC for 5 and 15 years, respectively. NPC may initially present in adulthood with psychosis, and when psychosis is associated with VSGP, various dyskinesias, and seizures, NPC should be suspected.
Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
The Neuropsychiatry of Niemann-Pick Type C Disease in Adulthood
IJMS, Free Full-Text
Recommendations on the diagnosis and management of Niemann-Pick disease type C - ScienceDirect
Mitochondrial G8292A and C8794T mutations in patients with Niemann‑Pick disease type C Corrigendum in /10.3892/br.2018.1156
Niemann–Pick Disease Type C
Spectrum of Movement Disorders in Niemann-Pick Disease Type C - Tremor and Other Hyperkinetic Movements
The Neuropsychiatry of Niemann-Pick Type C Disease in Adulthood
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years
Niemann-Pick Disease Type C
Niemann-Pick disease type C – topic of research paper in Biological sciences. Download scholarly article PDF and read for free on CyberLeninka open science hub.
White and gray matter alterations in adults with Niemann-Pick disease type C
Niemann Pick Disease - Rivin
Recomendado para você
-
Potential treatment for Niemann-Pick type C, a rare neurodegenerative disease19 novembro 2024
-
NNPDF on X: October is Global Niemann-Pick Disease Awareness Month! For more information on Niemann-Pick Disease or to make a donation to NNPDF go to #niemannpick #ASMD #NPC #raredisease #NNPDF #NiemannPickC19 novembro 2024
-
5 Most Promising Companies offering hope to patients with Niemann-Pick Type C19 novembro 2024
-
What You See and What You Don't: Diagnosing Niemann Pick, Type C - Complex Child19 novembro 2024
-
Parents of twins with Niemann-Pick find a treatment19 novembro 2024
-
O Portal da Uol publicou - Associação Niemann-Pick Brasil19 novembro 2024
-
NNPDF on X: #NNPDF partnered with @RareDiseases to create this animated educational resource on Niemann Pick Type C. Please help us raise awareness of #NPC by sharing this video with your networks19 novembro 2024
-
niemann pick type c|TikTok Search19 novembro 2024
-
Doença de Niemann Pick tipo C19 novembro 2024
-
SciELO - Brasil - Niemann-Pick disease type C: a case series of Brazilian patients Niemann-Pick disease type C: a case series of Brazilian patients19 novembro 2024
você pode gostar
-
Jogo Lógico Sudoku Para Crianças E Adultos. Quebra-cabeça De19 novembro 2024
-
Death March to the Parallel World Rhapsody Season 2 Will It Happen19 novembro 2024
-
Arsenal, Inc. > SAM7 SERIES > SAM7SF SERIES, 7.62, milled receiver rifle19 novembro 2024
-
Season 2 it's…possible for a crossover between Sonic Prime and other's Sonic universe continuity19 novembro 2024
-
Pansage BW14 Non-Holo Promo - Black & White Blister Exclusive - Pokemon Singles » Pokemon English Promos - Collector's Cache19 novembro 2024
-
Abby Spinak - Harvard Graduate School of Design19 novembro 2024
-
Hitori no Shita: The Outcast Merch Buy from Goods Republic - Online Store for Official Japanese Merchandise, Featuring Plush19 novembro 2024
-
What Is And How To Calculate FICA Taxes Explained, Social Security Taxes And Medicare Taxes19 novembro 2024
-
Staz of Blood Lad Manga by Yuuki Kodama stormyzapata19 novembro 2024
-
itssvd, CORBAL, Shiloh Dynasty & Dibyo - Losing Interest19 novembro 2024