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Genotype-phenotype Correlation in Pelizaeus Merzbacher Disease and Pelizaeus Merzbacher-like Disease

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dc.contributor.authorGÖKÇAL, ELİF
dc.contributor.authorBilir, Birdal
dc.contributor.authorBATTALOĞLU, ESRA
dc.contributor.authorAydin, Resa
dc.contributor.authorYapici, Zuhal
dc.contributor.institutionauthorGÖKÇAL, ELİF
dc.date.accessioned2020-10-22T20:26:41Z
dc.date.available2020-10-22T20:26:41Z
dc.date.issued2019-07-01T00:00:00Z
dc.description.abstractObjective: Among the hypomyelinating diseases of childhood, Pellizeus Merzhachcr disease (PMD) is caused by X-linked proteolipid protein (PLP) gene mutations, whereas patients without mutations of PLP gene-called Pelizaues Merzbacher-like disease (PMLD) have recessive gap junction protein alpha 12 (gap junction alpha-12/gap junction gamma-2) gene mutations. The aim of this study was to evaluate clinical severity and progression in time in patients with PMD and PMLD. Methods: The motor developmental stages of the patients were reviewed; disease severity was classified according to the walking ability they were able to achieve. Progression pattern was determined according to comparison of neurological findings at the time of the study and at follow-up visits. Patients with PMD and PMLD were compared in terms of disease severity and progression rates as well as patient groups with a unique causative mutation were analyzed individually. Results: There were 9 patients with PMD (mean age 15.2 +/- 3.1) and 11 patients with PMLD (mean age 1 2.4 +/- 1.9). The presence of severe disease was more common in patients with PMD when compared to PMLD. In X-linked PMD, missense mutations were associated with the most severe disease and rapid progression, while deletion mutations were associated with mild disease severity and slow progression. Disease severity and progression patterns seemed to he heterogenous in different causative mutations of PMLD. Conclusion: Although PMLD might have milder disease phenotype when compared to PMD, certain causative mutations in different genetic traits may cause different disease severity and progression patterns.
dc.identifier.citationGÖKÇAL E., Bilir B., BATTALOĞLU E., Aydin R., Yapici Z., -Genotype-phenotype Correlation in Pelizaeus Merzbacher Disease and Pelizaeus Merzbacher-like Disease-, BEZMIALEM SCIENCE, cilt.7, ss.215-220, 2019
dc.identifier.doi10.14235/bas.galenos.2018.2847
dc.identifier.trdizin324665
dc.identifier.urihttp://hdl.handle.net/20.500.12645/24787
dc.identifier.wosWOS:000499482100008
dc.subjectPelizaues-Merzbacher disease
dc.subjectPelizaues-Merzbacher-like Disease
dc.subjectgap junction protein alpha 12
dc.subjectgenotype
dc.subjectphenotype
dc.titleGenotype-phenotype Correlation in Pelizaeus Merzbacher Disease and Pelizaeus Merzbacher-like Disease
dc.typeArticle
dspace.entity.typePublication
local.avesis.ide639ba45-d906-4f1b-acc6-76a96f398444
local.publication.isinternational1
relation.isAuthorOfPublication734a30b9-566b-456d-87d6-248a8fe69888
relation.isAuthorOfPublication.latestForDiscovery734a30b9-566b-456d-87d6-248a8fe69888
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