Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy : An observational prospective open-label study

Van Egmond, Martje E. ; Weijenberg, Amerins ; Van Rijn, Margreet E. ; Elting, Jan Willem J. ; Gelauff, Jeannette M. ; Zutt, Rodi ; Sival, Deborah A. ; Lambrechts, Roald A. ; Tijssen, Marina A.J. and Brouwer, Oebele F. , et al. (2017) In Orphanet Journal of Rare Diseases 12(1).
Abstract

Background: North Sea Progressive Myoclonus Epilepsy is a rare and severe disorder caused by mutations in the GOSR2 gene. It is clinically characterized by progressive myoclonus, seizures, early-onset ataxia and areflexia. As in other progressive myoclonus epilepsies, the efficacy of antiepileptic drugs is disappointingly limited in North Sea Progressive Myoclonus Epilepsy. The ketogenic diet and the less restrictive modified Atkins diet have been proven to be effective in other drug-resistant epilepsy syndromes, including those with myoclonic seizures. Our aim was to evaluate the efficacy of the modified Atkins diet in patients with North Sea Progressive Myoclonus Epilepsy. Results: Four North Sea Progressive Myoclonus Epilepsy... (More)

Background: North Sea Progressive Myoclonus Epilepsy is a rare and severe disorder caused by mutations in the GOSR2 gene. It is clinically characterized by progressive myoclonus, seizures, early-onset ataxia and areflexia. As in other progressive myoclonus epilepsies, the efficacy of antiepileptic drugs is disappointingly limited in North Sea Progressive Myoclonus Epilepsy. The ketogenic diet and the less restrictive modified Atkins diet have been proven to be effective in other drug-resistant epilepsy syndromes, including those with myoclonic seizures. Our aim was to evaluate the efficacy of the modified Atkins diet in patients with North Sea Progressive Myoclonus Epilepsy. Results: Four North Sea Progressive Myoclonus Epilepsy patients (aged 7-20 years) participated in an observational, prospective, open-label study on the efficacy of the modified Atkins diet. Several clinical parameters were assessed at baseline and again after participants had been on the diet for 3 months. The primary outcome measure was health-related quality of life, with seizure frequency and blinded rated myoclonus severity as secondary outcome measures. Ketosis was achieved within 2 weeks and all patients completed the 3 months on the modified Atkins diet. The diet was well tolerated by all four patients. Health-related quality of life improved considerably in one patient and showed sustained improvement during long-term follow-up, despite the progressive nature of the disorder. Health-related quality of life remained broadly unchanged in the other three patients and they did not continue the diet. Seizure frequency remained stable and blinded rating of their myoclonus showed improvement, albeit modest, in all patients. Conclusions: This observational, prospective study shows that some North Sea Progressive Myoclonus Epilepsy patients may benefit from the modified Atkins diet with sustained health-related quality of life improvement. Not all our patients continued on the diet, but nonetheless we show that the modified Atkins diet might be considered as a possible treatment in this devastating disorder.

(Less)
Please use this url to cite or link to this publication:
author
; ; ; ; ; ; ; ; and , et al. (More)
; ; ; ; ; ; ; ; ; and (Less)
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Epilepsy, GOSR2 gene, Ketogenic diet, Modified Atkins diet, Myoclonus, North Sea Progressive Myoclonus Epilepsy, Quality of life, Treatment
in
Orphanet Journal of Rare Diseases
volume
12
issue
1
article number
45
publisher
BioMed Central (BMC)
external identifiers
  • scopus:85014555275
  • pmid:28264719
ISSN
1750-1172
DOI
10.1186/s13023-017-0595-3
language
English
LU publication?
no
id
4afc916a-fa2a-4a99-872e-9e91883deb3c
date added to LUP
2020-02-26 09:49:21
date last changed
2024-06-13 13:18:46
@article{4afc916a-fa2a-4a99-872e-9e91883deb3c,
  abstract     = {{<p>Background: North Sea Progressive Myoclonus Epilepsy is a rare and severe disorder caused by mutations in the GOSR2 gene. It is clinically characterized by progressive myoclonus, seizures, early-onset ataxia and areflexia. As in other progressive myoclonus epilepsies, the efficacy of antiepileptic drugs is disappointingly limited in North Sea Progressive Myoclonus Epilepsy. The ketogenic diet and the less restrictive modified Atkins diet have been proven to be effective in other drug-resistant epilepsy syndromes, including those with myoclonic seizures. Our aim was to evaluate the efficacy of the modified Atkins diet in patients with North Sea Progressive Myoclonus Epilepsy. Results: Four North Sea Progressive Myoclonus Epilepsy patients (aged 7-20 years) participated in an observational, prospective, open-label study on the efficacy of the modified Atkins diet. Several clinical parameters were assessed at baseline and again after participants had been on the diet for 3 months. The primary outcome measure was health-related quality of life, with seizure frequency and blinded rated myoclonus severity as secondary outcome measures. Ketosis was achieved within 2 weeks and all patients completed the 3 months on the modified Atkins diet. The diet was well tolerated by all four patients. Health-related quality of life improved considerably in one patient and showed sustained improvement during long-term follow-up, despite the progressive nature of the disorder. Health-related quality of life remained broadly unchanged in the other three patients and they did not continue the diet. Seizure frequency remained stable and blinded rating of their myoclonus showed improvement, albeit modest, in all patients. Conclusions: This observational, prospective study shows that some North Sea Progressive Myoclonus Epilepsy patients may benefit from the modified Atkins diet with sustained health-related quality of life improvement. Not all our patients continued on the diet, but nonetheless we show that the modified Atkins diet might be considered as a possible treatment in this devastating disorder.</p>}},
  author       = {{Van Egmond, Martje E. and Weijenberg, Amerins and Van Rijn, Margreet E. and Elting, Jan Willem J. and Gelauff, Jeannette M. and Zutt, Rodi and Sival, Deborah A. and Lambrechts, Roald A. and Tijssen, Marina A.J. and Brouwer, Oebele F. and De Koning, Tom J.}},
  issn         = {{1750-1172}},
  keywords     = {{Epilepsy; GOSR2 gene; Ketogenic diet; Modified Atkins diet; Myoclonus; North Sea Progressive Myoclonus Epilepsy; Quality of life; Treatment}},
  language     = {{eng}},
  month        = {{03}},
  number       = {{1}},
  publisher    = {{BioMed Central (BMC)}},
  series       = {{Orphanet Journal of Rare Diseases}},
  title        = {{The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy : An observational prospective open-label study}},
  url          = {{http://dx.doi.org/10.1186/s13023-017-0595-3}},
  doi          = {{10.1186/s13023-017-0595-3}},
  volume       = {{12}},
  year         = {{2017}},
}