A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients

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A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients. / Polet, Sjoukje S.; Anderson, David G.; Koens, Lisette H.; van Egmond, Martje E.; Drost, Gea; Brusse, Esther; Willemsen, Michèl AAP; Sival, Deborah A.; Brouwer, Oebele F.; Kremer, Hubertus PH; de Vries, Jeroen J.; Tijssen, Marina AJ; de Koning, Tom J.

I: Parkinsonism and Related Disorders, Vol. 72, 2020, s. 44-48.

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

Harvard

Polet, SS, Anderson, DG, Koens, LH, van Egmond, ME, Drost, G, Brusse, E, Willemsen, MAAP, Sival, DA, Brouwer, OF, Kremer, HPH, de Vries, JJ, Tijssen, MAJ & de Koning, TJ 2020, 'A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients', Parkinsonism and Related Disorders, vol. 72, s. 44-48. https://doi.org/10.1016/j.parkreldis.2020.02.005

APA

Polet, S. S., Anderson, D. G., Koens, L. H., van Egmond, M. E., Drost, G., Brusse, E., Willemsen, M. AAP., Sival, D. A., Brouwer, O. F., Kremer, H. PH., de Vries, J. J., Tijssen, M. AJ., & de Koning, T. J. (2020). A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients. Parkinsonism and Related Disorders, 72, 44-48. https://doi.org/10.1016/j.parkreldis.2020.02.005

CBE

Polet SS, Anderson DG, Koens LH, van Egmond ME, Drost G, Brusse E, Willemsen MAAP, Sival DA, Brouwer OF, Kremer HPH, de Vries JJ, Tijssen MAJ, de Koning TJ. 2020. A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients. Parkinsonism and Related Disorders. 72:44-48. https://doi.org/10.1016/j.parkreldis.2020.02.005

MLA

Vancouver

Author

Polet, Sjoukje S. ; Anderson, David G. ; Koens, Lisette H. ; van Egmond, Martje E. ; Drost, Gea ; Brusse, Esther ; Willemsen, Michèl AAP ; Sival, Deborah A. ; Brouwer, Oebele F. ; Kremer, Hubertus PH ; de Vries, Jeroen J. ; Tijssen, Marina AJ ; de Koning, Tom J. / A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients. I: Parkinsonism and Related Disorders. 2020 ; Vol. 72. s. 44-48.

RIS

TY - JOUR

T1 - A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients

AU - Polet, Sjoukje S.

AU - Anderson, David G.

AU - Koens, Lisette H.

AU - van Egmond, Martje E.

AU - Drost, Gea

AU - Brusse, Esther

AU - Willemsen, Michèl AAP

AU - Sival, Deborah A.

AU - Brouwer, Oebele F.

AU - Kremer, Hubertus PH

AU - de Vries, Jeroen J.

AU - Tijssen, Marina AJ

AU - de Koning, Tom J.

PY - 2020

Y1 - 2020

N2 - 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.

AB - 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.

KW - Ataxia

KW - Clinical phenotype

KW - GOSR2

KW - Neurophysiology

KW - North Sea Progressive Myoclonus Epilepsy

U2 - 10.1016/j.parkreldis.2020.02.005

DO - 10.1016/j.parkreldis.2020.02.005

M3 - Article

C2 - 32105965

AN - SCOPUS:85079603381

VL - 72

SP - 44

EP - 48

JO - Parkinsonism and Related Disorders

JF - Parkinsonism and Related Disorders

SN - 1873-5126

ER -