Narcolepsy with cataplexy in monozygotic twins
نویسندگان
چکیده
INTRODUCTION This paper describes narcolepsy with cataplexy in two monozygotic twin sisters. OBJECTIVE To clinically illustrate the involvement of neurological, genetic and immunologic systems in narcolepsy. MATERIAL AND METHODS We performed a restropective study of these patients that were followed in the sleep medicine ambulatory clinic of the Faculdade de Medicina de Ribeirao Preto. RESULTS These sisters are two of the few cases in the literature concordant for narcolepsy with catalepsy and without a "positive HLA" for narcolepsy. They had a typical clinical course of narcolepsy with cataplexy and attended all the neurophysiological diagnostic criteria for narcolepsy. CONCLUSION In addition to known possible genetical similarity, this report stresses the role of environmental or unknown genetical factors acting on a specific neuro-imuno-genetical background and resulting in narcolepsy.
منابع مشابه
Monozygotic twins concordant for narcolepsy-cataplexy without any detectable abnormality in the hypocretin (orexin) pathway.
Narcolepsy with cataplexy is thought to be a hypocretin ligand or hypocretin receptor deficiency syndrome caused by genetic and environmental factors. We looked for an abnormality of the hypocretin pathway in HLA-DQB1*0602-positive monozygotic twins who were concordant for narcolepsy-cataplexy. They had normal cerebrospinal fluid concentrations of hypocretin-1, and we found no mutation in the p...
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Narcolepsy runs in families, and recent research has revealed the human leukocyte antigen (HLA) DR2 to be a genetic marker closely associated with the disease. But, as indicated by family studies, other factors contribute to the pathogenesis of narcolepsy. The investigation of monozygotic twins is the most specific research tool for distinguishing between a multigenetic and a multifactorial pat...
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متن کاملHighlights from the 15th International Congress of Twin Studies/Twin Research: Differentiating MZ Co-twins Via SNPs; Mistaken Infant Twin-Singleton Hospital Registration; Narcolepsy With Cataplexy; Hearing Loss and Language Learning/Media Mentions: Broadway Musical Recalls Conjoined Hilton Twins; High Fashion Pair; Twins Turn 102; Insights From a Conjoined Twin Survivor.
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متن کاملINTRODUCTION NARCOLEPSY IS A DEBILITATING, LIFELONG DISORDER CHARACTERIZED BY EXCESSIVE DAYTIME SLEEPI- NESS AND REM SLEEP ABNORMALITIES INCLUDING CATAPLEXY, HYPNAGOGIC HALLUCINATIONS, AND SLEEP PARALYSIS. The International Classification of Sleep Disorders1 allows for a diagnosis of narcolepsy in patients
NARCOLEPSY IS A DEBILITATING, LIFELONG DISORDER CHARACTERIZED BY EXCESSIVE DAYTIME SLEEPINESS AND REM SLEEP ABNORMALITIES INCLUDING CATAPLEXY, HYPNAGOGIC HALLUCINATIONS, AND SLEEP PARALYSIS. The International Classification of Sleep Disorders1 allows for a diagnosis of narcolepsy in patients without cataplexy; however, narcolepsy with clear-cut cataplexy constitutes a more etiologically homogen...
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