Article ; Online: The natural history of Pelizaeus–Merzbacher disease caused by PLP1 duplication
Clinical Case Reports, Vol 11, Iss 9, Pp n/a-n/a (2023)
A multiyear case series
2023
Abstract: Key Clinical Message This study aimed to characterize the clinical features, developmental milestones, and the natural history of Pelizaeus–Merzbacher disease (PMD) associated with PLP1 gene duplications. The study examined 16 PMD Patients ranging in age ...
| Abstract | Key Clinical Message This study aimed to characterize the clinical features, developmental milestones, and the natural history of Pelizaeus–Merzbacher disease (PMD) associated with PLP1 gene duplications. The study examined 16 PMD Patients ranging in age from 7 to 48 years, who had a documented PLP1 gene duplication. The study examined and analyzed the medical and developmental histories of the subjects utilizing a combination of resources that included medical history questionnaires, medical record reviews, and a 31‐point functional disability scale that had been previously validated. The data extracted from the medical records and questionnaires for analysis included information related to medical and developmental histories, level of ambulation and cognition, and degree of functional disability. The summation of findings among the study population demonstrated that the presenting symptoms, developmental milestones achieved, and progression of symptoms reported are consistent with many previous studies of patients with PLP1 duplications. All patients exhibited onset within the first year of life, with nystagmus predominating as the first symptom noticed. All patients exhibited delays in both motor and language development; however, many individuals were able to meet several developmental milestones. They exhibited some degree of continued motor impairment with none having the ability to walk independently. All patients were able to complete at least some of the cognition achievements and although not all were verbal, a number were able to use communication devices to complete these tasks. A critical tool of the study was the functional disability scale which provided a major advantage in helping quantify the clinical course of PMD, and for several, we were able to gather this information at more than one point in time. These reported findings in our cohort contribute important insight into the clinical heterogeneity and potential underlying mechanisms that define the molecular pathogenesis of the disease. This ... |
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| Keywords | gene duplication ; humans ; mutation ; myelin proteolipid protein ; Pelizaeus–Merzbacher disease/genetics ; Pelizaeus–Merzbacher disease/pathophysiology ; Medicine ; R ; Medicine (General) ; R5-920 |
| Subject code | 610 |
| Language | English |
| Publishing date | 2023-09-01T00:00:00Z |
| Publisher | Wiley |
| Document type | Article ; Online |
| Database | BASE - Bielefeld Academic Search Engine (life sciences selection) |
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