Academic Journal
Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis
| العنوان: | Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis |
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| المؤلفون: | Hanna Mierzewska, Ewa Jamroz, Tomasz Mazurczak, Dorota Hoffman-Zacharska, Elżbieta Szczepanik |
| المصدر: | Folia Neuropathologica, Vol 54, Iss 1, Pp 59-65 (2016) |
| بيانات النشر: | Termedia Publishing House, 2016. |
| سنة النشر: | 2016 |
| المجموعة: | LCC:Medicine |
| مصطلحات موضوعية: | Pelizaeus-Merzbacher disease, hypomyelination, dysmyelination, leukodystrophy, PLP1 gene mutations, MRI, Medicine |
| الوصف: | Pelizaeus-Merzbacher disease (PMD) is X-linked hypomyelinating leukodystrophy caused by mutations of the PLP1 gene, which codes the proteolipid protein 1. The result of mutations is abnormal myelination – hypomyelination and dysmyelination of cerebral white matter, and in some form of the disease hypomyelinating peripheral neuropathy. DNA samples from 68 patients suspected of PMD due to the clinical course and hypomyelination at magnetic resonance imaging (MRI) were analyzed. Medical history and detailed clinical course of PMD patients were also analyzed. Different mutations of the PLP1 gene were detected in 14 boys from 11 families (~20%). Amongst the molecularly confirmed patients, 13 presented classical PMD forms but clinical phenotypes varied in the severity even amongst siblings. One patient presented a severe connatal form. One mother, obligate carrier, presented complicated SPG2 (spastic paraparesis). There was no phenotype-genotype correlation in our material. In many cases PMD was suspected with a delay of many years, sometimes only after birth of another affected child in the family. Pelizaeus-Merzbacher disease was most frequently misdiagnosed as cerebral palsy. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1641-4640 1509-572X |
| Relation: | https://www.termedia.pl/Pelizaeus-Merzbacher-disease-in-patients-with-molecularly-confirmed-diagnosis,20,27231,1,1.html; https://doaj.org/toc/1641-4640; https://doaj.org/toc/1509-572X |
| DOI: | 10.5114/fn.2016.58916 |
| URL الوصول: | https://doaj.org/article/8ce09d9be5484869a3b6f69660291d2d |
| رقم الانضمام: | edsdoj.8ce09d9be5484869a3b6f69660291d2d |
| قاعدة البيانات: | Directory of Open Access Journals |
| تدمد: | 16414640 1509572X |
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| DOI: | 10.5114/fn.2016.58916 |