BMC Neurology journal published the research on the families with autosomal dominant spastic paraplegias (SPG30)
BMC Neurology (Q1, IF 2.350) published an article by the researchers of FSBI RCMG various units including Research and Counseling Department (headed by E.L. Dadali, Doctor of med. sci.), DNA-Diagnostics Laboratory (headed by Prof. A.V. Polyakov, RAS corr. member) and Cancelling Unit (headed by G.N. Matyuschenko).
The publication contains first Russian monitoring (10 families) over KIF1A-related autosomal dominant spastic paraplegia of type 30 (SPG30). The article shows that SPG30, previously described as a very rare recessive form, is mainly of dominant inheritance. It takes the 3rd place in the DNA-verified SPG group and is distinguished by a pronounced clinical diversity. The research described 4 new mutations in the KIF1A gene as well.
KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families
G.E.Rudenskaya, V.A. Kadnikova, O.P. Ryzhkova, L.A. Bessonova, E.L. Dadali, D.S.Guseva, T.V.Markova, D.N.Khmelkova, A.V.Polyakov.
BMC Neurology (2020) 20:290