Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis

Hanna Mierzewska; Ewa Jamroz; Tomasz Mazurczak; Dorota Hoffman-Zacharska; Elżbieta Szczepanik

doi:10.5114/fn.2016.58916

eISSN: 1509-572x
ISSN: 1641-4640

Folia Neuropathologica

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1/2016
vol. 54

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abstract:

Original paper

Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis

Hanna Mierzewska

,

Ewa Jamroz

,

Tomasz Mazurczak

,

Dorota Hoffman-Zacharska

,

Elżbieta Szczepanik

Folia Neuropathol 2016; 54 (1): 59-65

DOI: https://doi.org/10.5114/fn.2016.58916

Online publish date: 2016/03/31

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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.

keywords:

Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis

Hanna Mierzewska , Ewa Jamroz , Tomasz Mazurczak , Dorota Hoffman-Zacharska , Elżbieta Szczepanik

Pelizaeus-Merzbacher disease, hypomyelination, dysmyelination, leukodystrophy, PLP1 gene mutations, MRI

Hanna Mierzewska

,

Ewa Jamroz

,

Tomasz Mazurczak

,

Dorota Hoffman-Zacharska

,

Elżbieta Szczepanik