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- Title
Pelizaeus Merzbacher ve Pelizaeus Merzbacher-Benzeri Hastalıkta Genotip-Fenotip İlişkisi.
- Authors
Gökçal, Elif; Bilir, Birdal; Battaloğlu, Esra; Aydın, Resa; Yapıcı, Zuhal
- Abstract
Aim: Among the hypomyelinating diseases of childhood, Pelizaeus Merzbacher Disease (PMD) is caused by Xlinked proteolipid protein (PLP) gene mutations, whereas patients without mutations of PLP gene -called Pelizaues Merzbacher-like Disease (PMLD)- includes patients with autosomal recessive gap junction protein α12 (GJA12 /GJC2) gene mutations. The aim of this study was to evaluate clinical severity and progression in time between PMD and PMLD patients. 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. PMD and PMLD patients 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 PMD patients (mean age 15.2±3.1) and 11 PMLD patients (mean age 12.4±1.9). The presence of severe disease was more common in PMD patients when compared to PMLD. In X-linked PMD, missense mutations had the most severe disease and rapid progression, while deletion mutations had mild disease severity and slow progression. Disease severity and progression patterns seemed to be 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.
- Publication
Bezmialem Science, 2018, Vol 6, Issue 4, p1
- ISSN
2148-2373
- Publication type
Article
- DOI
10.14235/bs.2018.2847