The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.

ABSTRACT: In the field of hereditary spastic paraplegia (HSP), progress in molecular diagnostics needs to be translated into robust phenotyping studies to understand genetic and phenotypic heterogeneity and to support interventional trials. ZFYVE26-associated hereditary spastic paraplegia (HSP-ZFYVE26, SPG15) is a rare, early-onset complex HSP, characterized by progressive spasticity and a variety of other neurological symptoms. While prior reports, often in populations with high rates of consanguinity, have established a general phenotype, there is a lack of systematic investigations and a limited understanding of age-dependent manifestation of symptoms. Here we delineate the clinical, neuroimaging and molecular features of 44 individuals from 36 families, the largest cohort assembled to date. Medi

SUBMITTER: Saffari A 

PROVIDER: S-EPMC10411936 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature