Niemann–Pick type C: focus on the adolescent/adult onset form

Chronic administration of an HDAC inhibitor treats both neurological and systemic Niemann-Pick type C disease in a mouse model

(2016) Md. Suhail Alam et al.   Science Translational Medicine

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

(2015) Christopher A. Wassif et al.   GENETICS IN MEDICINE

NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening

(2015) Matthis Synofzik et al.   JOURNAL OF NEUROLOGY

Longitudinal changes in cerebellar and subcortical volumes in adult-onset Niemann–Pick disease type C patients treated with miglustat

(2015) Elizabeth A. Bowman et al.   JOURNAL OF NEUROLOGY

Acetyl-dl-leucine in Niemann-Pick type C

(2015) Tatiana Bremova et al.   NEUROLOGY

A double-blind, randomized, placebo-controlled trial studying the effects of Saccharomyces boulardii on the gastrointestinal tolerability, safety, and pharmacokinetics of miglustat

(2015) Tatiana Remenova et al.   Orphanet Journal of Rare Diseases

Longitudinal assessment of reflexive and volitional saccades in Niemann-Pick Type C disease during treatment with miglustat

(2015) Larry A. Abel et al.   Orphanet Journal of Rare Diseases

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

(2015) Simona Fecarotta et al.   Orphanet Journal of Rare Diseases

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease

(2015) Anne-Katrin Giese et al.   Orphanet Journal of Rare Diseases

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study

(2015) Marc C Patterson et al.   Orphanet Journal of Rare Diseases

Results from a 9-year Intensive Safety Surveillance Scheme (IS3) in miglustat (Zavesca®)-treated patients

(2015) Monika Brand et al.   PHARMACOEPIDEMIOLOGY AND DRUG SAFETY

A new simple and rapid LC–ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann–Pick type C disease

(2014) Sara Boenzi et al.   CLINICA CHIMICA ACTA

Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer’s disease?

(2014) Fiore Manganelli et al.   JOURNAL OF NEUROLOGY

Central ocular motor disorders, including gaze palsy and nystagmus

(2014) M. Strupp et al.   JOURNAL OF NEUROLOGY

Cognitive impairment in “Other” movement disorders: Hidden defects and valuable clues

(2014) Mark Walterfang et al.   MOVEMENT DISORDERS

Improved neuroprotection using miglustat, curcumin and ibuprofen as a triple combination therapy in Niemann–Pick disease type C1 mice

(2014) Ian M. Williams et al.   NEUROBIOLOGY OF DISEASE

Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years

(2014) Helena Jahnova et al.   Orphanet Journal of Rare Diseases

Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review

(2014) Olivier Bonnot et al.   Orphanet Journal of Rare Diseases

Plasma Lysosphingomyelin Demonstrates Great Potential as a Diagnostic Biomarker for Niemann-Pick Disease Type C in a Retrospective Study

(2014) Richard W. D. Welford et al.   PLoS One

Auditory Phenotype of Niemann-Pick Disease, Type C1

(2013) Kelly A. King et al.   EAR AND HEARING

Maladie de Niemann-Pick de type C chez l’adulte et troubles psychiatriques : revue de littérature

(2013) A. Maubert et al.   ENCEPHALE-REVUE DE PSYCHIATRIE CLINIQUE BIOLOGIQUE ET THERAPEUTIQUE

Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study

(2013) P. Bauer et al.   HUMAN MOLECULAR GENETICS

Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease

(2013) Mathieu Anheim et al.   JOURNAL OF NEUROLOGY

Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy

(2013) J. Schicks et al.   NEUROLOGY

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

(2013) Eugen Mengel et al.   Orphanet Journal of Rare Diseases

Disease and patient characteristics in NP-C patients: findings from an international disease registry

(2013) Marc C Patterson et al.   Orphanet Journal of Rare Diseases

Subcortical Volumetric Reductions in Adult Niemann-Pick Disease Type C: A Cross-Sectional Study

(2012) M. Walterfang et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Treatable metabolic psychoses that go undetected: What Niemann-Pick type C can teach us

(2012) Hans-Hermann Klünemann et al.   INTERNATIONAL JOURNAL OF PSYCHIATRY IN CLINICAL PRACTICE

Normalization of Cholesterol Homeostasis by 2-Hydroxypropyl-β-cyclodextrin in Neurons and Glia from Niemann-Pick C1 (NPC1)-deficient Mice

(2012) Kyle B. Peake et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

(2012) Marc C. Patterson et al.   MOLECULAR GENETICS AND METABOLISM

Effects of cyclodextrin in two patients with Niemann–Pick Type C disease

(2012) Muneaki Matsuo et al.   MOLECULAR GENETICS AND METABOLISM

Vertical supranuclear gaze palsy in Niemann-Pick type C disease

(2012) Ettore Salsano et al.   NEUROLOGICAL SCIENCES

Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C

(2012) F. A. Wijburg et al.   NEUROLOGY

Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat

(2012) Mark Walterfang et al.   Orphanet Journal of Rare Diseases

Size and Shape of the Corpus Callosum in Adult Niemann-Pick Type C Reflects State and Trait Illness Variables

(2011) M. Walterfang et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Gastrointestinal disturbances and their management in miglustat-treated patients

(2011) Nadia Belmatoug et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

(2011) Xuntian Jiang et al.   JOURNAL OF LIPID RESEARCH

Unesterified Cholesterol Accumulation in Late Endosomes/Lysosomes Causes Neurodegeneration and Is Prevented by Driving Cholesterol Export from This Compartment

(2011) A. Aqul et al.   JOURNAL OF NEUROSCIENCE

Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-Pick type C1 mutant human fibroblasts

(2011) N. H. Pipalia et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Diagnostic clinique des formes de l’adulte de la maladie de Niemann-Pick type C

(2010) F. Sedel   ARCHIVES DE PEDIATRIE

Psychosis as a presentation of physical disease in adolescence: a case of Niemann-Pick disease, type C

(2010) John V Campo et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

White and gray matter alterations in adults with Niemann-Pick disease type C: A cross-sectional study

(2010) M. Walterfang et al.   NEUROLOGY

 -Secretase-dependent amyloid-  is increased in Niemann-Pick type C: A cross-sectional study

(2010) N. Mattsson et al.   NEUROLOGY

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

Weekly Cyclodextrin Administration Normalizes Cholesterol Metabolism in Nearly Every Organ of the Niemann-Pick Type C1 Mouse and Markedly Prolongs Life

(2010) Charina M Ramirez et al.   PEDIATRIC RESEARCH

Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 Disease

(2010) F. D. Porter et al.   Science Translational Medicine

Structure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of Cholesterol

(2009) Hyock Joo Kwon et al.   CELL

Niemann–Pick disease type C1 presenting with psychosis in an adolescent male

(2009) Sabine Sandu et al.   EUROPEAN CHILD & ADOLESCENT PSYCHIATRY

Recommendations on the diagnosis and management of Niemann-Pick disease type C

(2009) James E. Wraith et al.   MOLECULAR GENETICS AND METABOLISM

Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study

(2009) M. Pineda et al.   MOLECULAR GENETICS AND METABOLISM

Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study

(2009) J.E. Wraith et al.   MOLECULAR GENETICS AND METABOLISM

Miglustat in adult and juvenile patients with Niemann–Pick disease type C: Long-term data from a clinical trial

(2009) James E. Wraith et al.   MOLECULAR GENETICS AND METABOLISM

Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits

(2009) L. A. Abel et al.   NEUROLOGY

Miglustat (Zavesca®) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme

(2009) Carla E. M. Hollak et al.   PHARMACOEPIDEMIOLOGY AND DRUG SAFETY

Cost of illness associated with Niemann-Pick disease type C in the UK

(2009) Jackie Imrie et al.   JOURNAL OF MEDICAL ECONOMICS

24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: Follow up using brain spectroscopy

(2008) Damien Galanaud et al.   MOLECULAR GENETICS AND METABOLISM