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Volume 11
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10.3390/brainsci11010093
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Article

Expanding the Clinical and Mutational Spectrum of the PLP1-Related Hypomyelination of Early Myelinated Structures (HEMS)

by
Francesco Nicita
1,2,*,
Chiara Aiello
1,2,
Gessica Vasco
3,
Massimiliano Valeriani
4,
Fabrizia Stregapede
1,2,5,
Andrea Sancesario
3,6,
Michela Armando
3 and
Enrico Bertini
1,2
1
Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience, IRCCS Bambino Gesù Children’s Hospital, 00146 Rome, Italy
2
Laboratory of Molecular Medicine, Department of Neuroscience, IRCCS Bambino Gesù Children’s Hospital, 00146 Rome, Italy
3
Unit of Neurorehabilitation, Department of Neurorehabilitation, IRCCS Bambino Gesù Children’s Hospital, 00050 Rome, Italy
4
Unit of Neurology, Department of Neuroscience, IRCCS Bambino Gesù Children’s Hospital, 00165 Rome, Italy
5
Department of Sciences, University of Roma Tre, 00146 Rome, Italy
6
Department Systems Medicine, University of Roma Tor Vergata, 00133 Rome, Italy
*
Author to whom correspondence should be addressed.
Brain Sci. 2021, 11(1), 93; https://doi.org/10.3390/brainsci11010093
Submission received: 7 December 2020 / Revised: 3 January 2021 / Accepted: 11 January 2021 / Published: 13 January 2021
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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.
Keywords: HEMS; PLP1; DM20; exon 3B; intron 3; proteolipid protein 1; leukodystrophy; hypomyelinating; Pelizaeus-Merzbacher disease HEMS; PLP1; DM20; exon 3B; intron 3; proteolipid protein 1; leukodystrophy; hypomyelinating; Pelizaeus-Merzbacher disease
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MDPI and ACS Style

Nicita, F.; Aiello, C.; Vasco, G.; Valeriani, M.; Stregapede, F.; Sancesario, A.; Armando, M.; Bertini, E. Expanding the Clinical and Mutational Spectrum of the PLP1-Related Hypomyelination of Early Myelinated Structures (HEMS). Brain Sci. 2021, 11, 93. https://doi.org/10.3390/brainsci11010093

AMA Style

Nicita F, Aiello C, Vasco G, Valeriani M, Stregapede F, Sancesario A, Armando M, Bertini E. Expanding the Clinical and Mutational Spectrum of the PLP1-Related Hypomyelination of Early Myelinated Structures (HEMS). Brain Sciences. 2021; 11(1):93. https://doi.org/10.3390/brainsci11010093

Chicago/Turabian Style

Nicita, Francesco, Chiara Aiello, Gessica Vasco, Massimiliano Valeriani, Fabrizia Stregapede, Andrea Sancesario, Michela Armando, and Enrico Bertini. 2021. "Expanding the Clinical and Mutational Spectrum of the PLP1-Related Hypomyelination of Early Myelinated Structures (HEMS)" Brain Sciences 11, no. 1: 93. https://doi.org/10.3390/brainsci11010093

APA Style

Nicita, F., Aiello, C., Vasco, G., Valeriani, M., Stregapede, F., Sancesario, A., Armando, M., & Bertini, E. (2021). Expanding the Clinical and Mutational Spectrum of the PLP1-Related Hypomyelination of Early Myelinated Structures (HEMS). Brain Sciences, 11(1), 93. https://doi.org/10.3390/brainsci11010093

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