Atefeh Davarzani

TL;DR: In this paper, the authors performed whole-exome sequencing (WES) to identify hereditary spastic paraplegia (HSP) causing genes in three unrelated-Iranian probands.

TL;DR: This case is 1 of 2 cases with the oldest onset age reported so far in MPAN and suggests that p.Thr11Met mutation in the C19orf12 gene may cause a late-onset form of the disease with a rapidly progressive course and extensive iron deposition in the brain.

TL;DR: The number of PRDM8-related cases is increased, the phenotypic spectrum of mutations in the PR DM8 gene is expanded and both reported PRDM 8-related families presented intra and inter-familial heterogeneity and they have originated from the Middle East.

TL;DR: In this article, a whole-exome sequencing was done on DNA of 14 unrelated Iranian AD-HSP probands, and candidate variants were PCR-amplified and sequenced by the Sanger method, subsequently checked in family members to co-segregation analysis.

TL;DR: The present study affirmed GAN allelic heterogeneity and resulted in the expansion of the phenotypic spectrum of GAN pathogenic variants and provides an opportunity for genetic counseling especially in the populations with a high degree of consanguineous marriage such as the Iranian population.