Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis
PBN-AR
Instytucja
Instytut Matki i Dziecka
Informacje podstawowe
Główny język publikacji
en
Czasopismo
Folia Neuropathologica
ISSN
1641-4640
EISSN
1509-572X
Wydawca
TERMEDIA PUBLISHING HOUSE LTD
DOI
Rok publikacji
2016
Numer zeszytu
1
Strony od-do
59-65
Numer tomu
54
Link do pełnego tekstu
Identyfikator DOI
Liczba arkuszy
Autorzy przekładu
(liczba autorów przekładu: 0)
Słowa kluczowe
en
Pelizaeus-Merzbacher disease
hypomyelination
dysmyelination
leukodystrophy
PLP1 gene mutations
MRI
Streszczenia
Język
en
Treść
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.
Cechy publikacji
Medycyna
Medicine
discipline:Medycyna
discipline:Medicine
Original article
Original article presents the results of original research or experiment.
Oryginalny artykuł naukowy
Oryginalny artykuł naukowy przedstawia rezultaty oryginalnych badań naukowych lub eksperymentu.
Inne
System-identifier
PBN-R:746113