Niemann-pick disease type
Loss of amyloid precursor protein exacerbates early inflammation in Niemann-Pick disease type C
... Niemann-Pick 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 ...
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Miglustat in Niemann-Pick disease type C patients: a review
... Niemann-Pick disease Type C (NP-C) is a rare neuro- visceral lysosomal disorder caused by autosomal reces- sive mutations in either the NPC1 gene (in 95% of cases) or the NPC2 gene (in ...
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The Palliative Use of Intrathecal Baclofen in Niemann-Pick Disease Type C
... Niemann-Pick disease type C (NPC) is a highly variable, rare progressive genetic disorder characterized by an inability of the body to transport cholesterol and other fatty substances (lipids) ...
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Functional analysis of Niemann Pick disease type C family protein, NPC1a, in Drosophila melanogaster
... During embryonic gonad coalescence, primordial germ cells (PGCs) follow a carefully choreographed migratory route circumscribed by guidance signals towards somatic gonadal precursor cells (SGPs). In Drosophila ...
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Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients
... Niemann-Pick disease type C (NP-C, OMIM 257220, 607625) is a rare autosomal recessive disease belonging to the family of lysosomal storage ...
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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 efficacy data arising from our case series suggest clinical improvements in the systemic and neurologic manifestations of NPC disease following the IV admin- istration of HPβCD. It is emphasized that this is a ...
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Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators
... patients of German and Swiss origin, to date the most comprehensive survey on NP-C in these countries. We confirm many of the findings in other cohorts [8,9,12-18], among them a delay of several years from neurological ...
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Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report
... A 25-year-old man presented with a 14-year history of intellectual disability (since 11 years of age), clumsiness (12 years), spastic ataxia (16 years), slow and slurred speech (17 years), schizophrenic delusions (18 ...
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Niemann-Pick disease type C
... Many uncertainties thus remain regarding the precise and complete functions of the NPC1 and NPC2 proteins. It has also been suggested that they could be involved in fusion/fission events between the late endosome and the ...
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Subcortical Volumetric Reductions in Adult Niemann Pick Disease Type C: A Cross Sectional Study
... The key limitation of this study is its sample size, which, despite the rarity of adult NPC, remains modest. This size limits the generalizability of our findings to all patients, particularly pediatric patients. ...
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Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect
... Impaired gait, cognitive/psychiatric symptoms, impaired manipulation, dysarthria, and dysphagia were the most frequent neurological symptoms, observed in 81–94% of patients overall (Fig. 2 and Additional file 2: Figure ...
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Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C
... Three of the eight late-infantile onset patients had splenomegaly, among whom only one also had a his- tory of neonatal cholestasis (#11 – his elder brother died from foetal hydrops due to NP-C). No patients in this ...
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A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)
... The newly developed early-onset NP-C SI outper- forms the original NP-C SI in identifying patients with NP-C aged ≤4 years. A finding of high likelihood of NP-C should immediately warrant further con- firmatory genetic ...
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A Prospective, Cross-sectional Survey Study of the Natural History of Niemann-Pick Disease Type B
... common type of genetic lesion, comprising 59% of ...have type A disease on the basis of the absence of the full-length, functional SMPD1 gene product, their less severe type B phenotype is ...
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Successful Hematopoietic Stem Cell Transplantation for Niemann-Pick Disease Type B
... on days 3, 6, 11, and 18. Her transplant complications included veno-occlusive disease and mild to moderate respiratory distress. After an initial engraftment that showed mixed chimerism (85% donor/15% recipient), ...
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Complement is dispensable for neurodegeneration in Niemann-Pick disease type C
... disease progression. DCN and CA2 neurons possess an extensive perineuronal extracellular matrix (ECM) com- position [11,12]. In the DCN and CA2, C1q partially co-localized with the ECM component chondroitin sul- ...
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Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p Ser192Alafs) in a Palestinian infant with Niemann–Pick disease type A: a case report
... Here we report on a case with abnormal clinical and laboratory findings of NPD type A in a heterozygous indi- vidual who carried only one pathogenic mutation in the SMPD1 gene (NM_000543.4(SMPD1):c.573delT ...
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Consensus clinical management guidelines for Niemann-Pick disease type C
... of disease severity is dependent on the experience of the treating clinician, but such clinical judgement may not be reliable when the disease is rare and most clinicians have limited exposure to the condi- ...
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Niemann-Pick disease type C symptomatology: an expert-based clinical description
... the disease may be under-diagnosed due to its highly heterogeneous ...the disease and that can be found in other ...Early disease detection should rely on seeking a combination of signs and symptoms, ...
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Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks
... for Niemann-Pick disease Type C1 (NPC1) based on hiPS cells is currently ...neurodegenerative disease caused by mutations in the NPC1 gene located on chro- mosome 18q11 encoding for a ...
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