Article
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Brain : a journal of neurology - 2 May 2023
Saffari Afshin, Kellner Melanie, Jordan Catherine, Rosengarten Helena, Mo Alisa, Zhang Bo, Strelko Oleksandr, Neuser Sonja, Davis Marie Y, Yoshikura Nobuaki, Futamura Naonobu, Takeuchi Tomoya, Nabatame Shin, Ishiura Hiroyuki, Tsuji Shoji, Aldeen Huda Shujaa, Cali Elisa, Rocca Clarissa, Houlden Henry, Efthymiou Stephanie, Assmann Birgit, Yoon Grace, Trombetta Bianca A, Kivisäkk Pia, Eichler Florian, Nan Haitian, Takiyama Yoshihisa, Tessa Alessandra, Santorelli Filippo M, Sahin Mustafa, Blackstone Craig, Yang Edward, Schüle Rebecca, Ebrahimi-Fakhari Darius
Abstract excerpt
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...
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