The second family affected with a PRDM8-related disease.
Atefeh DavarzaniAmin ShahrokhiSeyyed Saleh HashemiAida GhasemiMohammad Reza Habibi KavashkoheiNiloofar FarboodiAnthony E LangMaryam GhiasiMohammad RohaniAfagh AlaviPublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2022)
The current study increases the number of PRDM8-related cases and expands the phenotypic spectrum of mutations in the PRDM8 gene. Both reported PRDM8-related families presented intra and inter-familial heterogeneity and they have originated from the Middle East. Thus, it seems the PRDM8 mutations should be considered not only in LD but also in other neurodegenerative disorders such as a complicated HSP-like phenotype, especially in this region.