0000000000347644

AUTHOR

Frédéric Sedel

showing 3 related works from this author

Niemann-Pick disease type C symptomatology: an expert-based clinical description

2013

Niemann-Pick disease type C (NP-C) is a rare, progressive, irreversible disease leading to disabling neurological manifestations and premature death. The estimated disease incidence is 1:120,000 live births, but this likely represents an underestimate, as the disease may be under-diagnosed due to its highly heterogeneous presentation. NP-C is characterised by visceral, neurological and psychiatric manifestations that are not specific to the disease and that can be found in other conditions. The aim of this review is to provide non-specialists with an expert-based, detailed description of NP-C signs and symptoms, including how they present in patients and how they can be assessed. Early dise…

MalePediatricsmedicine.medical_specialtyPsychosisAtaxiaReviewDiseaseGelastic cataplexyDysarthriaDiagnosisMiglustatHumansMedicineGenetics(clinical)Pharmacology (medical)Lysosomal lipid storage diseaseVertical supranuclear gaze palsyCognitive declineGenetics (clinical)DystoniaMedicine(all)Niemann–Pick disease type Cbusiness.industryNiemann-Pick disease type CNiemann-Pick Disease Type CGeneral Medicinemedicine.diseaseDystoniaCognitive impairmentSplenomegalyAtaxiaFemalemedicine.symptombusinessmedicine.drugOrphanet Journal of Rare Diseases
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Recommendations on the diagnosis and management of Niemann-Pick disease type C

2009

Niemann-Pick disease type C (NP-C) is a lysosomal storage disease in which impaired intracellular lipid trafficking leads to excess storage of cholesterol and glycosphingolipids in the brain and other tissues. it is characterized clinically by a variety of progressive, disabling neurological symptoms including clumsiness, limb and gait ataxia, dysarthria, dysphagia and cognitive deterioration (dementia). Until recently, there has been no disease-modifying therapy available for NP-C, with treatment limited to supportive measures. In most countries, NP-C is managed through specialist centers, with non-specialist support provided locally. However, effective patient Support is hampered by the a…

Adultmedicine.medical_specialtyNeurology1303 BiochemistryAdolescentEndocrinology Diabetes and Metabolism610 Medicine & healthDiseaseBiochemistry03 medical and health sciencesDysarthriaYoung Adult0302 clinical medicineEndocrinology1311 GeneticsGeneticsLysosomal storage diseasemedicine1312 Molecular BiologyDementiaHumansMass ScreeningIntensive care medicineChildMolecular BiologyMass screening030304 developmental biology0303 health sciencesNiemann–Pick disease type Cbusiness.industryInfant NewbornInfantNiemann-Pick Disease Type CMiddle Agedmedicine.disease3. Good health1310 Endocrinology2712 Endocrinology Diabetes and Metabolism10036 Medical ClinicChild PreschoolPhysical therapyGait Ataxiamedicine.symptombusiness030217 neurology & neurosurgery
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Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study

2009

Miglustat has been shown to stabilize disease progression in children, juveniles and adults with Niemann-Pick disease type C (NP-C), a rare genetic disorder characterized by progressive neurological deterioration. We report findings from a retrospective observational cohort study assessing the effects of miglustat on neurological disease progression in patients treated in the clinical practice setting. Data from all NP-C patients prescribed miglustat at 25 expert centers were evaluated using a disease disability scale. The scale analyzed four key parameters of neurological disease progression in NP-C (ambulation, manipulation, language, swallowing). Mean individual parameter scores and a co…

MalePediatricsmedicine.medical_specialty1-Deoxynojirimycin1303 BiochemistryAdolescentEndocrinology Diabetes and Metabolism610 Medicine & healthDiseaseBiochemistryCohort StudiesEndocrinology1311 GeneticsMiglustat1312 Molecular BiologyGeneticsHumansMedicineEnzyme InhibitorsChildMolecular BiologyRetrospective StudiesNiemann–Pick disease type Cbusiness.industryNiemann-Pick Disease Type CRetrospective cohort studymedicine.disease1310 EndocrinologyClinical trial2712 Endocrinology Diabetes and MetabolismTreatment Outcome10036 Medical ClinicCohortFemalebusinessNiemann–Pick diseaseCohort studymedicine.drugMolecular Genetics and Metabolism
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