Academic Journal
Expanding the Clinical and Mutational Spectrum of the PLP1-Related Hypomyelination of Early Myelinated Structures (HEMS)
| العنوان: | Expanding the Clinical and Mutational Spectrum of the PLP1-Related Hypomyelination of Early Myelinated Structures (HEMS) |
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| المؤلفون: | Nicita, Francesco, Aiello, Chiara, Vasco, Gessica, Valeriani, Massimiliano, Stregapede, Fabrizia, Sancesario, Andrea, Armando, Michela, Bertini, Enrico |
| المساهمون: | Nicita, F, Aiello, C, Vasco, G, Valeriani, M, Stregapede, F, Sancesario, A, Armando, M, Bertini, E |
| بيانات النشر: | MDPI |
| سنة النشر: | 2021 |
| المجموعة: | Universitá degli Studi di Roma "Tor Vergata": ART - Archivio Istituzionale della Ricerca |
| مصطلحات موضوعية: | DM20, HEMS, PLP1, Pelizaeus-Merzbacher disease, exon 3B, hypomyelinating, intron 3, leukodystrophy, proteolipid protein 1, Settore MED/39 |
| الوصف: | the PLP1 gene, located on chromosome Xq22, encodes the proteolipid protein 1 and its isoform DM20. mutations in PLP1 cause a spectrum of white matter disorders of variable severity. Here we report on four additional HEMS patients from three families harboring three novel PLP1 mutations in exon 3B detected by targeted next-generation sequencing. patients experienced psychomotor delay or nystagmus in the first year of age and then developed ataxic-spastic or ataxic syndrome, compatible with a phenotype of intermediate severity in the spectrum of PLP1-related disorders. regression occurred at the beginning of the third decade of the eldest patient. extrapyramidal involvement was rarely observed. brain MRI confirmed the involvement of structures that physiologically myelinate early, although the pattern of abnormalities may differ depending on the age at which the study is performed. these new cases contribute to expanding the phenotypic and genotypic spectrum of HEMS. additional studies, especially enriched by systematic functional evaluations and long-term follow-up, are welcome to better delineate the natural history of this rare hypomyelinating leukodystrophy. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/33450882; info:eu-repo/semantics/altIdentifier/wos/WOS:000609846600001; volume:11; issue:1; firstpage:1; lastpage:9; numberofpages:9; journal:BRAIN SCIENCES; https://hdl.handle.net/2108/363725; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85099347009 |
| DOI: | 10.3390/brainsci11010093 |
| الاتاحة: | https://hdl.handle.net/2108/363725 https://doi.org/10.3390/brainsci11010093 |
| Rights: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.A54DE9DC |
| قاعدة البيانات: | BASE |
| DOI: | 10.3390/brainsci11010093 |
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