Niemann-Pick type C (NPC)
Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease
... as Niemann-Pick type C, and in the process created an in- novative research collaborative known as Support of Accelerated Research for Niemann-Pick C disease ...
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Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment
... Neurometabolic disorders encompass a very wide spectrum of diseases, of heterogeneous clinical and radio- logical presentations. While their diagnosis remains diffi- cult, treatments are emerging, emphasizing the need of ...
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Deficiency of Niemann-Pick Type C-1 Protein Impairs Release of Human Immunodeficiency Virus Type 1 and Results in Gag Accumulation in Late Endosomal/Lysosomal Compartments
... virus type 1 (HIV-1) relies on cholesterol-laden lipid raft membrane microdo- mains for entry into and egress out of susceptible ...using Niemann-Pick type C-1 (NPC1)-deficient (NPCD) ...
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Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C
... Niemann-Pick type C (NP-C) is a rare autosomal reces- sive neurodegenerative disorder with an estimated inci- dence of 1 per ...
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Longitudinal assessment of reflexive and volitional saccades in Niemann-Pick Type C disease during treatment with miglustat
... for NPC, inclusion of measures such as these may be useful objective, quantitative indicators of treatment efficacy in a number of widely divergent brain ...adult-onset NPC patients, the changes seen in ...
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Size and Shape of the Corpus Callosum in Adult Niemann Pick Type C Reflects State and Trait Illness Variables
... additional NPC studies (not used in current article), Consultant: Actelion Pharmaceuticals, Details: Central Assessor, Zavesca (miglustat) clinical trials, eye movement component: ...of NPC pediatric ...
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Proteomics of the corpus callosum to identify novel factors involved in hypomyelinated Niemann-Pick Type C disease mice
... Among the downregulated proteins, twelve were anno- tated as myelin proteins, in which some are essential for the axonal integrity and myelination. The deficiency of Bcas1, Enpp6, Mbp, or Ugt8 disrupts myelination and ...
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Atypical multisensory integration in Niemann Pick type C disease towards potential biomarkers
... each NPC participant at these quan- ...three NPC boys fall completely outside the normal distribution between the second and sixth quantiles (10th, 15th, 20th, 25th, and 30th ...The NPC partici- ...
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Visualization of cholesterol deposits in lysosomes of Niemann-Pick type C fibroblasts using recombinant perfringolysin O
... To identify the vesicles stained by GST-PFO in NPC fi- broblasts, colocalization of the probe with markers of different cellular compartments was analyzed. Of the several organelle-specific probes, the ...
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Cognitive impairment profile in adult patients with Niemann pick type C disease
... patients had cognitive impairments, with mainly execu- tive dysfunctions and frontal syndrome. They also re- ported aphasia, apraxia and memory impairment for some patients. Several studies have showed frontal hypo- ...
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New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat
... Since NP-C is primarily a neurological disease, at least in patients whose symptoms develop in early childhood or later, any effective treatment for NP-C needs to be able to cross the blood–brain barrier in ...
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Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report
... of NPC, sleep problems, such as excessive daytime sleepiness, are known to be related to NPC, presumably via dysfunction of the locus coeruleus ...infantile NPC with compound heterozy- gous mutations ...
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Subcortical Volumetric Reductions in Adult Niemann Pick Disease Type C: A Cross Sectional Study
... Neuronal loss in the hippocampus and thalamus, the subcor- tical regions of greatest and most significant volume loss in this study, would be expected to cause marked neuropsychological impairment in NPC. The ...
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Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators
... the NPC-cdb score, which allowed us to closely monitor disease progression independent from the age of ...the NPC-cdb score for a patient does neither rely on laboratory investigations nor on la- borious ...
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Consensus clinical management guidelines for Niemann-Pick disease type C
... as NPC disease com- prises a continuum ...of NPC and, owing to their longer survival, probably con- stitute the largest patient group in terms of disease prevalence ...
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Loss of amyloid precursor protein exacerbates early inflammation in Niemann-Pick disease type C
... disease type C (NPC) is a neurodegenerative disease inherited in an autosomal recessive pattern [1], with mutations in the NPC1 gene accounting for approximately 95% of all reported cases and the ...
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Complement is dispensable for neurodegeneration in Niemann-Pick disease type C
... Calbindin-D28K immunofluorescence. In Npc1 -/- mice, more abundant C1qa was detected in the cerebellum, but the additional mRNA was not produced by the degenerating PNs (Figure 2B, 2C). Instead, the major- ity of the ...
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Niemann Pick C1 Is Essential for Ebolavirus Replication and Pathogenesis In Vivo
... Niemann-Pick type C disease caused by abnormality in NPC1 or NPC2 function leads to accumulation of cholesterol and glyco- sphingolipids in late endosomes (19, 42, 43), the presumed site of ...
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Miglustat in Niemann-Pick disease type C patients: a review
... international NPC Registry also showed stable or im- proved swallowing function based on disability scores [46]. Silent aspiration (i.e., food or fluid aspiration without overt, observable signs of choking) of ...
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Expanded access with intravenous hydroxypropyl-β-cyclodextrin to treat children and young adults with Niemann-Pick disease type C1: a case report analysis
... The original Hastings/Hempel protocol was developed in 2008 and granted Investigational New Drug (IND) ap- proval [Hastings C. Compassionate Use of Hydroxy- propyl-ß-cyclodextrin in Identical Twins Suffering from ...
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