Abstract | BACKGROUND: METHODS: Participants with GNE myopathy were asked to complete a questionnaire regarding medical history and current symptoms. RESULTS: A total of 71 participants with genetically confirmed GNE myopathy (27 males and 44 females; mean age, 43.1±13.0 (mean±SD) years) completed the questionnaire. Initial symptoms (e.g., foot drop and lower limb weakness) appeared at a mean age of 24.8±8.3 years. Among the 71 participants, 11 (15.5%) had the ability to walk, with a median time to loss of ambulation of 17.0±2.1 years after disease onset. Participants with a homozygous mutation (p.V572L) in the N-acetylmannosamine kinase domain (KD/KD participants) had an earlier disease onset compared to compound heterozygous participants with mutations in the uridine diphosphate-N-acetylglucosamine ( UDP-GlcNAc) 2-epimerase and N-acetylmannosamine kinase domains (ED/KD participants; 26.3±7.3 vs. 21.2±11.1 years, respectively). KD/KD participants were more frequently non-ambulatory compared to ED/KD participants at the time of survey (80% vs. 50%). Data were verified using medical records available from 17 outpatient participants. CONCLUSIONS: Homozygous KD/KD participants exhibited a more severe phenotype compared to heterozygous ED/KD participants.
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Authors | Madoka Mori-Yoshimura, Kazunari Monma, Naoki Suzuki, Masashi Aoki, Toshihide Kumamoto, Keiko Tanaka, Hiroyuki Tomimitsu, Satoshi Nakano, Masahiro Sonoo, Jun Shimizu, Kazuma Sugie, Harumasa Nakamura, Yasushi Oya, Yukiko K Hayashi, May Christine V Malicdan, Satoru Noguchi, Miho Murata, Ichizo Nishino |
Journal | Journal of the neurological sciences
(J Neurol Sci)
Vol. 318
Issue 1-2
Pg. 100-5
(Jul 15 2012)
ISSN: 1878-5883 [Electronic] Netherlands |
PMID | 22507750
(Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | Copyright © 2012 Elsevier B.V. All rights reserved. |
Chemical References |
- Multienzyme Complexes
- UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase
- Phosphotransferases (Alcohol Group Acceptor)
- N-acylmannosamine kinase
- Carbohydrate Epimerases
- UDP acetylglucosamine-2-epimerase
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Topics |
- Adolescent
- Adult
- Aged
- Carbohydrate Epimerases
(genetics, metabolism)
- Female
- Heterozygote
- Homozygote
- Humans
- Male
- Middle Aged
- Multienzyme Complexes
(genetics, metabolism)
- Phenotype
- Phosphotransferases (Alcohol Group Acceptor)
(genetics, metabolism)
- Protein Structure, Tertiary
(genetics)
- Severity of Illness Index
- Young Adult
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