Niemann-Pick type c
Cognitive impairment profile in adult patients with Niemann pick type C disease
... NPC: Niemann Pick type C; SPSS: Statistical package for social sciences software Acknowledgements The authors are grateful to Philippe Latour and Marie Vanier, who helped in the genetic ...
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Atypical multisensory integration in Niemann Pick type C disease towards potential biomarkers
... Background: Niemann-Pick type C (NPC) is an autosomal recessive disease in which cholesterol and glycosphingolipids accumulate in lysosomes due to aberrant cell-transport ...
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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 (SOAR-NPC) ...
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Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment
... Background: Niemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized by a wide clinical spectrum and non-specific conventional magnetic resonance imaging (MRI) ...
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ARF6-Mediated Endosome Recycling Reverses Lipid Accumulation Defects in Niemann-Pick Type C Disease
... human Niemann-Pick Type C (NPC) disease, endosomal trafficking defects lead to an accumulation of free cholesterol and other lipids in late endosome/lysosome (LE/LY) compartments, a subsequent ...
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Cholesterol Pathways Affected by Small Molecules That Decrease Sterol Levels in Niemann-Pick Type C Mutant Cells
... Background: Niemann-Pick type C (NPC) disease is a genetically inherited multi-lipid storage disorder with impaired efflux of cholesterol from lysosomal storage ...
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Niemann-Pick type C disease: Journey to Diagnosis
... In addition; physicians must be able to identify very specific signs such as vertical supranuclear gaze palsy (VSGP) or splenomegaly. These signs which are highly suggestive of NP-C and which are almost always ...
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Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C
... We found myoclonus in five out of eight patients, of which in three of them it was the first presenting move- ment disorder. The reported frequency of myoclonus in NP-C in the literature is low, but our study ...
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New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat
... Wraith and Imrie Dovepress gangliosides in the brain could contribute to the neurological manifestations of the disease. 19 NP-C has an extremely heterogeneous clinical presenta- tion characterized by a wide range ...
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Longitudinal assessment of reflexive and volitional saccades in Niemann-Pick Type C disease during treatment with miglustat
... Parameters analysed were reflexive saccade gain and latency, asymptotic peak saccadic velocity, HSEM- α (the slope of the peak duration-amplitude regression line), antisaccade error perc[r] ...
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Visualization of cholesterol deposits in lysosomes of Niemann-Pick type C fibroblasts using recombinant perfringolysin O
... Rodriguez-Lafrasse C, Pentchev P, Carstea ED: Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage ...Cummings C, Gu J, Rosenfeld MA, ...
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Proteomics of the corpus callosum to identify novel factors involved in hypomyelinated Niemann-Pick Type C disease mice
... Fig. 3 Differentially expressed proteins between WT and NPC mice. a: Volcano plot of the Log2 LFQ differences versus -Log10 P -values of the common proteins between WT and NPC. The downregulated proteins in NPC were on ...
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Size and Shape of the Corpus Callosum in Adult Niemann Pick Type C Reflects State and Trait Illness Variables
... patients with NPC by using MR spectroscopy. 37,38 Significant reductions in white matter integrity, including the corpus cal- losum, have been reported by using DTI in both pediatric and adult patients. 11,39 In animal ...
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Cholinergic Abnormalities, Endosomal Alterations and Up-Regulation of Nerve Growth Factor Signaling in Niemann-Pick Type C Disease
... Results: NPC1-deficient cholinergic cells respond to NGF after axotomy and exhibit increased levels of choline acetyl transferase (ChAT), whose gene is under the control of NGF signaling, compared to wild type ...
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Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C
... Niemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized by the occurrence of visceral and neurological symptoms. At present, the molecular mechanisms causing ...
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Niemann-Pick disease type C
... Overall, the disease course stabilized in 72% of patients treated for one year or more, based on a composite assessment of horizontal saccadic eye movement velocity, ambulation, swallowing and cognition. In January 2009, ...
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Niemann-Pick Type A (Lipidoses)
... • Ocular finding- cherry red spot, blindness, optic atrophy, corneal clouding • Systemic manifestation- hepatosplenomegaly, failure to thrive, loss of motor.. function, death by age 3[r] ...
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Miglustat in Niemann-Pick disease type C patients: a review
... Conclusions Since its initial approval in 2009, clinical experience with miglustat in the treatment of NP-C has increased mark- edly, as documented in numerous clinical cohort studies, case series and case ...
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Complement is dispensable for neurodegeneration in Niemann-Pick disease type C
... DIG-labeled antisense probes for in situ detection of C1qa were designed as previously described [3]. A total of 200 ng/mL of purified DIG-labeled RNA probe was hybridized to 50 μm thick vibratome tissue sections that ...
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Consensus clinical management guidelines for Niemann-Pick disease type C
... howewer, our guideline didn’t partially or completely met 5/23 items outlined in the AGREE II system, and we haven’t calculated quality scores for all appraisal items [1]. Relevant papers were evaluated by members of the ...
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