| Title: |
Expanding the Clinical and Mutational Spectrum of the PLP1 -Related Hypomyelination of Early Myelinated Structures (HEMS). |
| Authors: |
Nicita, Francesco, Aiello, Chiara, Vasco, Gessica, Valeriani, Massimiliano, Stregapede, Fabrizia, Sancesario, Andrea, Armando, Michela, Bertini, Enrico |
| Source: |
Brain Sciences (2076-3425); Jan2021, Vol. 11 Issue 1, p93-93, 1p |
| Subject Terms: |
NATURAL history, PHENOTYPES, PATIENTS' attitudes, WHITE matter (Nerve tissue), NUCLEOTIDE sequencing, LEUKODYSTROPHY |
| Abstract: |
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. [ABSTRACT FROM AUTHOR] |
|
Copyright of Brain Sciences (2076-3425) is the property of MDPI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| Database: |
Complementary Index |
|
Full text is not displayed to guests. |
Login for full access.
|
