GOSR2-related progressive myoclonus ataxia explained
| GOSR2-related progressive myoclonus ataxia |
| Synonyms: | EPM6, PME type 6, Progressive myoclonic epilepsy type 6, North Sea progressive myoclonus epilepsy, Progressive myoclonus epilepsy type 6 |
| Symptoms: | Myoclonic epilepsy with progressive ataxia |
| Onset: | Early |
| Duration: | Lifelong |
| Types: | This disorder is a type of progressive myoclonic epilepsy, but it doesn't have any subtypes itself |
| Risk: | --> |
| Frequency: | very rare, only 12 cases have been described in medical literature |
| Deaths: | - |
GOSR2-related progressive myoclonus ataxia, also known as Progressive myoclonic epilepsy type 6 is a rare genetic type of progressive myoclonus ataxia which is characterized by progressive myoclonic epilepsy with an early onset which is associated with generalized tonic-clonic seizures, petit mal seizures, and drop attacks, variable degrees of scoliosis, areflexia, high levels of creatine kinase serum, and late-onset cognitive decline.[1] [2]
According to OMIM,[3] only 12 cases have been described in medical literature.[4] [5] [6] It is caused by autosomal recessive loss of function mutations in the (as the name implies) GOSR2 gene, in chromosome 17.[4]
Notes and References
- Web site: Orphanet: Progressive myoclonic epilepsy type 6 . 2022-06-16 . www.orpha.net . en.
- Web site: 2021-03-21 . GOSR2-related progressive myoclonus ataxia Genetic and Rare Diseases Information Center (GARD) – an NCATS Program . 2022-06-16 . 2021-03-21 . https://web.archive.org/web/20210321154552/https://rarediseases.info.nih.gov/diseases/3872/gosr2-related-progressive-myoclonus-ataxia . bot: unknown .
- Web site: OMIM Entry - # 614018 - Epilepsy, Progressive Myoclonic, 6; EPM6 . 2022-06-16 . omim.org . en-us.
- Corbett . Mark A. . Schwake . Michael . Bahlo . Melanie . Dibbens . Leanne M. . Lin . Meng . Gandolfo . Luke C. . Vears . Danya F. . O'Sullivan . John D. . Robertson . Thomas . Bayly . Marta A. . Gardner . Alison E. . 2011-05-13 . A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia . American Journal of Human Genetics . 88 . 5 . 657–663 . 10.1016/j.ajhg.2011.04.011 . 1537-6605 . 3146720 . 21549339.
- van Egmond . Martje E. . Verschuuren-Bemelmans . Corien C. . Nibbeling . Esther A. . Elting . Jan Willem J. . Sival . Deborah A. . Brouwer . Oebele F. . de Vries . Jeroen J. . Kremer . Hubertus P. . Sinke . Richard J. . Tijssen . Marina A. . de Koning . Tom J. . January 2014 . Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation . Movement Disorders. 29 . 1 . 139–143 . 10.1002/mds.25704 . 1531-8257 . 24458321. 22595640 .
- Praschberger . Roman . Balint . Bettina . Mencacci . Niccolo E. . Hersheson . Joshua . Rubio-Agusti . Ignacio . Kullmann . Dimitri M. . Bettencourt . Conceição . Bhatia . Kailash . Houlden . Henry . September 2015 . Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene . Movement Disorders Clinical Practice . 2 . 3 . 271–273 . 10.1002/mdc3.12190 . 2330-1619 . 6178697 . 30363482.
