Abstract
Background: PLP1-related disorders are X-linked and include a range of clinical and neuro-radiological phenotypes from severe connatal and classic Pelizäus-Merzbacher disease (PMD), PLP1 null-syndrome to spastic paraplegia (SPG2). Most individuals with classic PMD have PLP1 duplications. Deletions of PLP1 are scarce. Female carriers may show mild neurological signs. Severely affected females with Xq22.2 microdeletions including PLP1 and skewed X-inactivation are reported; GLRA4, which in some cases also was deleted, is a novel candidate gene for X-linked intellectual disability.
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