ReviewCurrent neurology and neuroscience reports2015
Cataplexy and sleep disorders in Niemann-Pick type C disease.
Review in Current neurology and neuroscience reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
13 citing papers in PubMed, 30 citations in OpenAlex.
- Supranuclear Vertical Gaze Palsy in Movement Disorders.Neuro-ophthalmology (Aeolus Press) · 2025Review
- Bi-allelic variants in HCRT cause autosomal recessive narcolepsy.Neurogenetics · 2024Article
- Central sleep apnea and daytime sleepiness in Niemann-Pick type C disease: a report of 2 cases.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2023Article
- Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.Hereditas · 2022Article
- Review
- Beyond the Typical Syndrome: Understanding Non-motor Features in Niemann-Pick Type C Disease.Cerebellum (London, England) · 2020Review
- Early detection of Niemann-pick disease type C with cataplexy and orexin levels: continuous observation with and without Miglustat.Orphanet journal of rare diseases · 2020Article
- Neuropsychiatric Correlates of Narcolepsy.Current psychiatry reports · 2020Review
- Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2020Article
- Niemann-Pick Disease Type C Misdiagnosed as Cerebral Palsy: A Case Report.Annals of rehabilitation medicine · 2019Article
- Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report.BMC neurology · 2018Article
- Cataplexy and Its Mimics: Clinical Recognition and Management.Current treatment options in neurology · 2017Review
- Circadian profiling in two mouse models of lysosomal storage disorders; Niemann Pick type-C and Sandhoff disease.Behavioural brain research · 2016Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Niemann-Pick disease type C (NP-C) is a rare and progressive autosomal recessive disease leading to disabling neurological manifestation and premature death. The disease is prone to underdiagnosis because of its highly heterogeneous presentation. NP-C is characterized by visceral, neurological, and psychiatric manifestation, and its clinical picture varies according to age at onset. Although cataplexy is one of its characteristic symptoms, particularly in the late infantile and juvenile form, sleep disturbances are described only exceptionally. A combination of splenomegaly, vertical supranuclear gaze palsy, and cataplexy creates a most useful suspicion index tool for the disease. In adolescent and adult patients, when intellectual deterioration progresses and emotional reactions become flat, cataplexy usually disappears. Pathological findings in the brainstem in NP-C mouse model are compatible with the patients' symptoms including cataplexy. The authors observed cataplexy in 5 (3 with late infantile and 2 with juvenile form) out of 22 NP-C cases followed up in the past 20 years.
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