A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients
(2020) In Parkinsonism and Related Disorders 72. p.44-48- Abstract
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... (More)
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.
(Less)
- author
- organization
- publishing date
- 2020
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Ataxia, Clinical phenotype, GOSR2, Neurophysiology, North Sea Progressive Myoclonus Epilepsy
- in
- Parkinsonism and Related Disorders
- volume
- 72
- pages
- 5 pages
- publisher
- Elsevier
- external identifiers
-
- scopus:85079603381
- pmid:32105965
- ISSN
- 1353-8020
- DOI
- 10.1016/j.parkreldis.2020.02.005
- language
- English
- LU publication?
- yes
- id
- d6cc2905-ea48-41df-9477-e29be19fc497
- date added to LUP
- 2020-03-03 14:52:35
- date last changed
- 2024-06-12 10:20:03
@article{d6cc2905-ea48-41df-9477-e29be19fc497,
abstract = {{<p>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.</p>}},
author = {{Polet, Sjoukje S. and Anderson, David G. and Koens, Lisette H. and van Egmond, Martje E. and Drost, Gea and Brusse, Esther and Willemsen, Michèl AAP and Sival, Deborah A. and Brouwer, Oebele F. and Kremer, Hubertus PH and de Vries, Jeroen J. and Tijssen, Marina AJ and de Koning, Tom J.}},
issn = {{1353-8020}},
keywords = {{Ataxia; Clinical phenotype; GOSR2; Neurophysiology; North Sea Progressive Myoclonus Epilepsy}},
language = {{eng}},
pages = {{44--48}},
publisher = {{Elsevier}},
series = {{Parkinsonism and Related Disorders}},
title = {{A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients}},
url = {{http://dx.doi.org/10.1016/j.parkreldis.2020.02.005}},
doi = {{10.1016/j.parkreldis.2020.02.005}},
volume = {{72}},
year = {{2020}},
}