Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population.
Lior GreenbaumMerav Ben-DavidVera NikitinOrna GeraOrtal BarelAdi Hersalis-EldarJana ShamashNoam ShimshovizHaike Reznik-WolfMordechai ShohatDan DominissiniElon PrasAmir DoriPublished in: Annals of clinical and translational neurology (2021)
The HSPB1 c.407G>G (p.Arg136Leu) mutation causes an adult-onset, predominantly motor, axonal neuropathy in individuals of Jewish Iranian descent. Variable manifestations are noticed, and sensory involvement is more prominent in prolonged disease duration.