A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients
| Autor: | Jeroen J de Vries, E. Brusse, Gea Drost, Michèl A.A.P. Willemsen, Hubertus P. H. Kremer, Martje E. van Egmond, Sjoukje S Polet, Oebele F. Brouwer, Marina A. J. Tijssen, Lisette H. Koens, Tom J. de Koning, David G. Anderson, Deborah A Sival |
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| Přispěvatelé: | Neurology, Molecular Neuroscience and Ageing Research (MOLAR), Movement Disorder (MD) |
| Rok vydání: | 2020 |
| Předmět: |
Adult
Male 0301 basic medicine medicine.medical_specialty Pediatrics Neurology Ataxia Adolescent Myoclonic Jerk Mutation Missense Neural Conduction Scoliosis Progressive myoclonus epilepsy Status epilepticus Severity of Illness Index Cohort Studies Young Adult 03 medical and health sciences 0302 clinical medicine All institutes and research themes of the Radboud University Medical Center medicine Humans Age of Onset Mobility Limitation Child Electromyography business.industry Medical record Electroencephalography Middle Aged Qb-SNARE Proteins Myoclonic Epilepsies Progressive medicine.disease Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3] 030104 developmental biology Child Preschool Disease Progression Female North Sea Neurology (clinical) Geriatrics and Gerontology medicine.symptom business Myoclonus 030217 neurology & neurosurgery |
| Zdroj: | Parkinsonism & Related Disorders, 72, pp. 44-48 Parkinsonism and Related Disorders, 72, 44-48. Elsevier Parkinsonism & Related Disorders, 72, 44-48 Parkinsonism & Related Disorders, 72, 44-48. Elsevier |
| ISSN: | 1353-8020 |
| Popis: | INTRODUCTION: In 2011, a homozygous mutation in GOSR2 (c.430G > T; p. Gly144Trp) was reported as a novel cause of Progressive Myoclonus Epilepsy (PME) with early-onset ataxia. Interestingly, the ancestors of patients originate from countries bound to the North Sea, hence the condition was termed North Sea PME (NSPME). Until now, only 20 patients have been reported in literature. Here, we provide a detailed description of clinical and neurophysiological data of seventeen patients.METHODS: We collected clinical and neurophysiological data from the medical records of seventeen NSPME patients (5-46 years). In addition, we conducted an interview focused on factors influencing myoclonus severity.RESULTS: The core clinical features of NSPME are early-onset ataxia, myoclonus and seizures, with additionally areflexia and scoliosis. Factors such as fever, illness, heat, emotions, stress, noise and light (flashes) all exacerbated myoclonic jerks. Epilepsy severity ranged from the absence of or incidental clinical seizures to frequent daily seizures and status epilepticus. Some patients made use of a wheelchair during their first decade, whereas others still walked independently during their third decade. Neurophysiological features suggesting neuromuscular involvement in NSPME were variable, with findings ranging from indicative of sensory neuronopathy and anterior horn cell involvement to an isolated absent H-reflex.CONCLUSION: Although the sequence of symptoms is rather homogeneous, the severity of symptoms and rate of progression varied considerably among individual patients. Common triggers for myoclonus can be identified and myoclonus is difficult to treat; to what extent neuromuscular involvement contributes to the phenotype remains to be further elucidated. |
| Databáze: | OpenAIRE |
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