Clinical Characteristics of Cataplectic Attacks in Type 1 Narcolepsy

Parmar, Arpita; Murray, Brian J.; Narang, Indra

doi:10.1007/s11910-020-01057-z

Cited by 6 publications

(3 citation statements)

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“…This is consistent with our (author SK) direct examination of tone and reflexes in two patients during a typical PNKD episode, as well as video examination of multiple cases where events were characterized by semi-rigid posturing consistent with preserved or increased tone and inconsistent with atonia). However, cataplectic events, especially in children, can have a broad phenotype that overlaps with the paroxysmal dyskinesias seen in KCNMA1-linked channelopathy [31]. Although the somewhat broader PNKD term is preferred to describe the episodic movement abnormality seen in KCNMA1-linked channelopathy, there is disagreement regarding the nomenclature for patient episodes [33] and thus we have included the term "cataplexy If there is more than one clinical phenotype for episodic or paroxysmal symptoms, each symptom or episode should be evaluated independently on EEG, given the co-occurrence of epilepsy and other non-epileptic paroxysms.…”

Section: Clinical Evaluationmentioning

confidence: 99%

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An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy

et al. 2021

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KCNMA1-linked channelopathy is an emerging neurological disorder characterized by heterogeneous and overlapping combinations of movement disorder, seizure, developmental delay, and intellectual disability. KCNMA1 encodes the BK K + channel, which contributes to both excitatory and inhibitory neuronal and muscle activity. Understanding the basis of the disorder is an important area of active investigation; however, the rare prevalence has hampered the development of large patient cohorts necessary to establish genotype-phenotype correlations. In this review, we summarize 37 KCNMA1 alleles from 69 patients currently defining the channelopathy and assess key diagnostic and clinical hallmarks. At present, 3 variants are classified as gain-offunction with respect to BK channel activity, 14 loss-of-function, 15 variants of uncertain significance, and putative benign/VUS. Symptoms associated with these variants were curated from patient-provided information and prior publications to define the spectrum of clinical phenotypes. In this newly expanded cohort, seizures showed no differential distribution between patients harboring GOF and LOF variants, while movement disorders segregated by mutation type. Paroxysmal non-kinesigenic dyskinesia was predominantly observed among patients with GOF alleles of the BK channel, although not exclusively so, while additional movement disorders were observed in patients with LOF variants. Neurodevelopmental and structural brain abnormalities were prevalent in patients with LOF mutations. In contrast to mutations, disease-associated KCNMA1 single nucleotide polymorphisms were not predominantly related to neurological phenotypes but covered a wider set of peripheral physiological functions. Together, this review provides additional evidence exploring the genetic and biochemical basis for KCNMA1-linked channelopathy and summarizes the clinical repository of patient symptoms across multiple types of KCNMA1 gene variants.

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Section: Clinical Evaluationmentioning

confidence: 99%

“…PNKD3 events have features which overlap considerably with the cataplexy seen in patients with type 1 narcolepsy [ 31 ]. Both PNKD3 and cataplectic attacks can be triggered by emotion or excitement, are usually brief (seconds), and result in loss of muscle control.…”

Section: Introductionmentioning

confidence: 99%

An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy

et al. 2021

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“…Almost all patients with narcolepsy feel sleepy during the day and are prone to transition to Non-REM sleep. [17] However, the drowsiness of most patients can be relieved after waking up in the morning or taking a nap, indicating that the symptoms are recoverable. But drowsiness returned after just an hour or two, indicating that the system that maintains wakefulness is dysfunctional.…”

Section: Introductionmentioning

confidence: 99%

TCM syndrome differentiation and treatment of narcolepsy based on neurobiological mechanism: A review

2022

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Narcolepsy is a relatively rare brain disorder caused by the selective loss of orexin neurons. Narcolepsy is divided into Narcolepsy Type 1 (NT1) and Narcolepsis Type 2 (NT2). The pathogenesis of NT1 has been well established due to the severe loss of orexin neurons, while NT2 is still poorly understood, and little is known about its underlying neurobiological mechanisms. human leukocyte antigen alleles have been found to strongly influence the development of narcolepsy, with more than 90% of NT1 patients carrying the human leukocyte antigen II allele DQB1*06:02. In addition to the genetic evidence for the DQBI*06:02 allele, some other evidence suggests that a T cell-mediated immune mechanism destroys the orexin neurons of NT1, with CD4 + T cells being key. For this disease, traditional Chinese medicine (TCM) therapy has its own characteristics and advantages, especially the combination of acupuncture and medicine in the treatment of this disease in TCM, which has made considerable and gratifying progress. The purpose of this review is to introduce the frontier progress of neurobiology of narcolepsy, and to explore the syndrome differentiation and treatment of narcolepsy with the combined use of TCM and Western medicine combined with TCM.

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