Hypomyelinating leukodystrophies – a molecular insight into the white matter pathology
PBN-AR
Instytucja
Instytut Matki i Dziecka
Źródłowe zdarzenia ewaluacyjne
Informacje podstawowe
Główny język publikacji
en
Czasopismo
Clinical Genetics
ISSN
0009-9163
EISSN
1399-0004
Wydawca
WILEY-BLACKWELL
DOI
URL
Rok publikacji
2016
Numer zeszytu
4
Strony od-do
293-304
Numer tomu
90
Identyfikator DOI
Liczba arkuszy
0,71
Słowa kluczowe
en
hypomyelinating leukodystrophy
Pelizaeus–Merzbacher-like disease
Allan–Herndon–Dudley syndrome
SLC16A2
MCT8
Streszczenia
Język
en
Treść
Hypomyelinating leukodystrophies (HLDs) are a group of neurodevelopmental disorders that affect proper formation of the myelin sheath in the central nervous system. They are characterized by developmental delay, hypotonia, spasticity, and variable intellectual disability. In the past various classification systems for HLDs have been used, based on imaging findings, clinical manifestation, and organelle-specific disorders. Here we present a molecular insight into HLDs based on a defect in specific gene engaged in myelination. We discuss recent findings on pathogenesis, clinical presentation, and imaging related to these disorders. We focus on HLDs that are in use in differential diagnostics of Pelizaeus–Merzbacher disease (PMD), with a special emphasis on Allan–Herndon–Dudley syndrome (AHDS), an X-linked condition with delayed myelination due to thyroid transport disturbances. On the background of previously published patients we describe a proband initially considered as presenting with a severe PMD, whose diagnosis of AHDS due to a novel nonsense SLC16A2 mutation unraveled two previously undiagnosed generations of affected males who died in infancy from unexplained reasons. Since AHDS is found to be a relatively frequent cause of X-linked intellectual disability, we emphasize the need for determining the whole thyroid profile especially in hypotonic males with a delay of psychomotor development.
Cechy publikacji
discipline:Medycyna
discipline:Medicine
Review article
Review article is a summarization of the current state of the research on a particular subject.
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Inne
System-identifier
PBN-R:747399
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