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Article

Complicated spastic paraplegia in patients with <i>AP5Z1</i> mutations (SPG48)

25 Aug 2016

Abstract excerpt

OBJECTIVE: Biallelic mutations in the AP5Z1 gene encoding the AP-5 ζ subunit have been described in a small number of patients with hereditary spastic paraplegia (HSP) (SPG48); we sought to define genotype-phenotype correlations in patients with homozygous or compound heterozygous sequence variants predicted to be deleterious. METHODS: We performed clinical, radiologic, and pathologic studies in 6 patients with...

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PMID: 27606357
DOI: 10.1212/nxg.0000000000000098

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