Case report identifies a new mutation in the PLP1 gene causing hereditary spastic paraplegia type 2, expanding known genetic variants.
We report a case of a female patient with hereditary spastic paraplegia type 2 (SPG2), who harbors a novel heterozygous nonsense mutation (c.166C>T/p.Gln56*) in the proteolipid protein 1 (PLP1) gene, which has been previously unpublished in the literature. This discovery expands the spectrum of pathogenic mutations in the PLP1 gene.
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