GOSR2-related progressive myoclonus ataxia

GOSR2-related progressive myoclonus ataxia
Other namesEPM6, PME type 6, Progressive myoclonic epilepsy type 6, North Sea progressive myoclonus epilepsy, Progressive myoclonus epilepsy type 6
SpecialtyMedical genetics
SymptomsMyoclonic epilepsy with progressive ataxia
ComplicationsWalking, consciousness, sanity
Usual onsetEarly
DurationLifelong
TypesThis disorder is a type of progressive myoclonic epilepsy, but it doesn't have any subtypes itself
CausesAutosomal recessive genetic mutation
Diagnostic methodGenetic testing
TreatmentPhysical therapy
Frequencyvery 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]

References

  1. ^ "Orphanet: Progressive myoclonic epilepsy type 6". www.orpha.net. Retrieved 2022-06-16.
  2. ^ "GOSR2-related progressive myoclonus ataxia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". 2021-03-21. Archived from the original on 2021-03-21. Retrieved 2022-06-16.{{cite web}}: CS1 maint: bot: original URL status unknown (link)
  3. ^ "OMIM Entry - # 614018 - Epilepsy, Progressive Myoclonic, 6; EPM6". omim.org. Retrieved 2022-06-16.
  4. ^ a b 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. doi:10.1016/j.ajhg.2011.04.011. ISSN 1537-6605. PMC 3146720. PMID 21549339.
  5. ^ 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. doi:10.1002/mds.25704. ISSN 1531-8257. PMID 24458321. S2CID 22595640.
  6. ^ 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. doi:10.1002/mdc3.12190. ISSN 2330-1619. PMC 6178697. PMID 30363482.
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