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A detailed descript...
A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients
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- Polet, Sjoukje S. (author)
- University Medical Center Groningen
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- Anderson, David G. (author)
- University of the Witwatersrand
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- Koens, Lisette H. (author)
- University Medical Center Groningen
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- van Egmond, Martje E. (author)
- University Medical Center Groningen
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- Drost, Gea (author)
- University Medical Center Groningen
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- Brusse, Esther (author)
- Erasmus University Medical Center
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- Willemsen, Michèl AAP (author)
- Radboud University Medical Center
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- Sival, Deborah A. (author)
- University Medical Center Groningen
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- Brouwer, Oebele F. (author)
- University Medical Center Groningen
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- Kremer, Hubertus PH (author)
- University Medical Center Groningen
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- de Vries, Jeroen J. (author)
- University Medical Center Groningen
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- Tijssen, Marina AJ (author)
- University Medical Center Groningen
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- de Koning, Tom J. (author)
- Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,University Medical Center Groningen,University of Groningen
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(creator_code:org_t)
- Elsevier BV, 2020
- 2020
- English 5 s.
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In: Parkinsonism and Related Disorders. - : Elsevier BV. - 1353-8020. ; 72, s. 44-48
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http://www.prd-journ...
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Abstract
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Keyword
- Ataxia
- Clinical phenotype
- GOSR2
- Neurophysiology
- North Sea Progressive Myoclonus Epilepsy
Publication and Content Type
- art (subject category)
- ref (subject category)
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Polet, Sjoukje S ...
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Anderson, David ...
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Koens, Lisette H ...
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van Egmond, Mart ...
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Drost, Gea
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Brusse, Esther
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show more...
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Willemsen, Michè ...
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Sival, Deborah A ...
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Brouwer, Oebele ...
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Kremer, Hubertus ...
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de Vries, Jeroen ...
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Tijssen, Marina ...
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de Koning, Tom J ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Neurology
- Articles in the publication
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Parkinsonism and ...
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Lund University