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Niemann-Pick disease type C
... neurological disease. Systemic disease, when present, always precedes onset of neurological symp- toms, but the systemic component may be absent or min- imal in approximately 15% of all patients, and close ... See full document
6
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% ... See full document
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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 ... See full document
13
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 ... See full document
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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 ... See full document
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Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators
... different disease domains are the stron- gest NP-C ...apparent disease, it has not been taken into account during the generation how far in the disease process in in- dividual patients had ... See full document
10
Subcortical Volumetric Reductions in Adult Niemann Pick Disease Type C: A Cross Sectional Study
... while minimizing the type II errors inherent in a simple Bon- ferroni correction. In this method, uncorrected P values are or- dered, with the smallest value compared with 0.05/n (where n ⫽ number of comparisons). ... See full document
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A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)
... the disease, specific- ally in parents or siblings, which alone is sufficient for high suspicion of NP-C in patients with unclear med- ical ...the disease [1]. These symptoms distinguished well ... See full document
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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 ... See full document
9
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect
... Results: In France, patients with an adolescent-adult neurological form constituted approximately 25% of all NP-C cases diagnosed during the study period. Forty-seven patients (46 with NP-C1 and one with NP-C2; ... See full document
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Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report
... Finally, we would like to focus on the narcolepsy expe- rienced by the mother of Cases 2 and 3, who shared the c.160_161insG (p.D54GfsX4) mutation. In addition to gelastic cataplexy as one of the key ... See full document
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Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C
... neurological disease during miglustat therapy com- pared with patients with severe, early-infantile onset ...the disease before starting therapy, while those with a better evolution had started therapy at ... See full document
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Complement is dispensable for neurodegeneration in Niemann-Pick disease type C
... NPC disease is driven by more dominant cell-autonomous mechanisms [2,9,17], and we suggested that immune factors might have minimal ...NPC disease, even with loss of com- plement, supports these ...NPC ... See full document
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Miglustat in Niemann-Pick disease type C patients: a review
... Diffusion tensor imaging (DTI) is another neuroimag- ing method that has been used in NP-C to measure white matter architecture and integrity, and may be useful for identifying regional changes in myelination and ... See full document
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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, ... See full document
12
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- ... See full document
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Clinical Reasoning: Psychomotor regression in the young
... The combination of progressive cognitive decline, ataxia, chorea, and vertical gaze impairment all sug- gest a diagnosis of Niemann-Pick disease, type C (NP-C). Therefore, ... See full document
5
Unique molecular signature in mucolipidosis type IV microglia
... mucolipidosis type IV and Fabry disease mice to determine if impaired lysosomal function is sufficient to prime these brain-resident immune ...mucolipidosis type IV, Mcoln1 − / − microglia ... See full document
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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 ... See full document
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A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease
... [2]. Niemann-Pick Type C dis- ease (NPC) is an autosomal-recessive LSD, that is re- ported to affect 1:120,000 live births [3], though the relative frequency in at-risk cohorts such as ... See full document
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