Clinical classification of PLP1-related disorders

Clinical classification of PLP1-related disorders. The spectrum of the disease is a continuum ranging from severe PMD (form 0) to SPG2 (form 4), with decreasing clinical severity. Under each category, the most frequent PLP1 mutations and their consequences are indicated.

PLP1: proteolipid protein 1; PMD: Pelizaeus-Merzbacher disease.

From: Khalaf G, Mattern C, Begou M, et al. Mutation of proteolipid protein 1 gene: From severe hypomyelinating leukodystrophy to inherited spastic paraplegia. Biomedicines 2022; 10:1709. Copyright © 2022 The Authors. Available at: https://www.mdpi.com/2227-9059/10/7/1709 (Accessed on January 10, 2024). Reproduced under the terms of the Creative Commons Attribution License 4.0.

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Clinical classification of PLP1-related disorders