ArticleOrphanet journal of rare diseases2016
Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C.
Article in Orphanet journal of rare diseases, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Neuropsychological assessment in Niemann-Pick disease type C: a systematic review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Pooled it
- Article
- Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases.Journal of inherited metabolic disease · 2025Article
- Swallowing characterization of adult-onset Niemann-Pick, type C1 patients.Orphanet journal of rare diseases · 2024Article
- Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature.BMC infectious diseases · 2024Review
- Clinical correlates of movement disorders in adult Niemann-Pick type C patients measured via a Personal KinetiGraph.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Genetic and phenotypic variability in adult patients with Niemann Pick type C from Serbia: single-center experience.Journal of neurology · 2022Article
- Elevated granulocyte-colony stimulating factor and hematopoietic stem cell mobilization in Niemann-Pick type C1 disease.Journal of lipid research · 2022Article
- Classification of Dystonia.Life (Basel, Switzerland) · 2022Review
- Spectrum of Movement Disorders in Niemann-Pick Disease Type C.Tremor and other hyperkinetic movements (New York, N.Y.) · 2022Article
- Measuring saccades in patients with Niemann-Pick type C: A comparison between video-oculography and a novel eye tracking test based on continuous psychophysics.Clinical parkinsonism & related disorders · 2022Article
- Nosology and Phenomenology of Psychosis in Movement Disorders.Movement disorders clinical practice · 2020Review
- Novel compound heterozygous mutation inJournal of genetics · 2020Article
- Psychiatric and Cognitive Symptoms Associated with Niemann-Pick Type C Disease: Neurobiology and Management.CNS drugs · 2019Review
- Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism.Movement disorders : official journal of the Movement Disorder Society · 2018Review
- Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review.Orphanet journal of rare diseases · 2018Article
- Recent neuroimaging, neurophysiological, and neuropathological advances for the understanding of NPC.F1000Research · 2018Review
- Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult.Frontiers in neurology · 2017Article
- The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases.Movement disorders clinical practiceArticle
- Oromandibular Dystonia - A Systematic Review.Annals of Indian Academy of NeurologyArticle
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNiemann-Pick type C (NP-C) is a rare autosomal recessive progressive neurodegenerative disorder caused by mutations in the NP-C 1 or 2 gene. Besides visceral symptoms, presentation in adolescent and adult onset variants is often with neurological symptoms. The most frequently reported presenting symptoms of NP-C in adulthood are psychiatric symptoms (38 %), cognitive decline (23 %) and ataxia (20 %). Myoclonus can be present, but its value in early diagnosis and the evolving clinical phenotype in NP-C is unclear. In this paper we present eight Dutch cases of NP-C of whom five with myoclonus.
methodsEight patients with genetically confirmed NP-C were recruited from two Dutch University Medical Centers. A structured interview and neuropsychological tests (for working and verbal memory, attention and emotion recognition) were performed. Movement disorders were assessed using a standardized video protocol. Quality of life was evaluated by questionnaires (Rand-36, SIP-68, HAQ). In four of the five patients with myoclonic jerks simultaneous EEG with EMG was performed.
resultsA movement disorder was the initial neurological symptom in six patients: three with myoclonus and three with ataxia. Two others presented with psychosis. Four experienced cognitive deficits early in the course of the disease. Patients showed cognitive deficits in all investigated domains. Five patients showed myoclonic jerks, including negative myoclonus. In all registered patients EEG-EMG coherence analysis and/or back-averaging proved a cortical origin of myoclonus. Patients with more severe movement disorders experienced significantly more physical disabilities.
conclusionsPresenting neurological symptoms of NP-C include movement disorders, psychosis and cognitive deficits. At current neurological examination movement disorders were seen in all patients. The incidence of myoclonus in our cohort was considerably higher (63 %) than in previous publications and it was the presenting symptom in 38 %. A cortical origin of myoclonus was demonstrated. Our data suggest that myoclonus may be overlooked in patients with NP-C. All patients scored significantly lower on physical domains of HRQoL. Symptomatic treatment of movement disorders may improve physical functioning and subsequently HRQoL.
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