Niemann–Pick disease, type C
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C
... with Niemann Pick disease type C (age range: 7 months to 44 years) were enrolled in an Italian independent multicenter trial and treated with miglustat for periods from 48 to 96 ...
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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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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 ...
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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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Use of miglustat in a child with late infantile onset Niemann Pick disease type C and frequent seizures: a case report
... presentation: Niemann-Pick disease type C homozygous for NPC1 mutation ...2819 C>T] was diagnosed in a four-and-a-half-year-old Norwegian Caucasian ...
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Loss of amyloid precursor protein exacerbates early inflammation in Niemann-Pick disease type C
... Here, we asked whether the amyloid precursor protein (APP) plays a role in the early interferon-driven aberrant signaling observed in the pre-symptomatic NPC brain. APP is a disease modifier of ...
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Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials
... of disease progression ...the disease spectrum, resulting in a heterogeneous group that includes the two clinical ex- ...are disease modifying or ...vanced disease that are less likely to ...
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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 ...
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Niemann-Pick disease type C
... 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 ...modified ...
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Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect
... the disease, sometimes decades be- fore other neurological symptoms, and was not consid- ered a good marker of neurodegeneration onset; and 3) the association between cognitive developmental symp- toms and initial ...
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Subcortical Volumetric Reductions in Adult Niemann Pick Disease Type C: A Cross Sectional Study
... We have demonstrated that patients with adult NPC show key volume reduction in a number of subcortical regions compared with healthy individuals, occurring in sites where neuropatho- logic abnormalities have been shown ...
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Saccharomyces cerevisiae Npc2p Is a Functionally Conserved Homologue of the Human Niemann-Pick Disease Type C 2 Protein, hNPC2
... crystal structures of bovine NPC2 (13) and the dust mite al- lergen Der P 2 (10). The yeast model, which was created by using the sequence alignment shown in Fig. 1A, encompassed only the amino acids aligned with the ...
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Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat
... with late-infantile or juvenile-onset NPC1 and one male patient with severe early-infantile onset NPC2 [18]. These patients received miglustat therapy, dosed accord- ing to BSA for between 3 and 4 years. The severity of ...
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Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review
... The age of onset of NP-C can range from the perinatal period to adulthood, with symptomatology varying with age of onset. Early-onset NP-C tends to be more severe and rapidly progressive than adult-onset ...
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Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C
... Nuclear and cytoplasmic fractions were prepared as pre- viously described [30], with few modifications. Briefly, PN11-75 cerebella (3 mice/genotype/age) were homoge- nized using a glass Dounce homogenizer in 10 mM HEPES, ...
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An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family
... NP-C was previously thought to show strictly classical autosomal-recessive inheritance, with both parents being obligate carriers of the disease. Our current results suggest the presence of paternal ...
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Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators
... As the early diagnosis and start of treatment is believed to benefit treatment outcome in NP-C [8-10], we deter- mined the manifestation of selected neuropsychiatric signs relative to the time point of diagnosis ...
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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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Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C
... Paediatric forms of NP-C tend to feature initial hepa- tosplenomegaly; an episode of neonatal cholestatic ic- terus may have occurred [1,8,14]. Later on, neurological manifestations begin to overshadow systemic ...
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Consensus clinical management guidelines for Niemann-Pick disease type C
... Mutation analysis of NPC1 and NPC2 genes is mandatory to confirm the diagnosis of NPC. In addition, it is the only reliable method to diagnose NPC carriers within the family and the highly preferred strategy for prenatal ...
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