Tohoku Medical and Pharmaceutical University Researchers Reveal New Findings on Hereditary Spastic Paraplegia (Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population).

A new study conducted by researchers at Tohoku Medical and Pharmaceutical University in Sendai, Japan, focuses on hereditary spastic paraplegia (HSP), a group of neurological disorders characterized by progressive spasticity and weakness in the lower limbs. The study specifically examines SPG26, a complicated form of HSP that includes cognitive impairment, developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. The researchers identified a novel variant of the B4GALNT1 gene in a patient with progressive multi-system neurodegeneration and found that it impaired the function of ganglioside GM2/GD2 synthase (GM2S), leading to the diagnosis of HSP26. The study also identified other deleterious variants of B4GALNT1 in the general population in Japan, providing a basis for molecular analyses and improving the molecular diagnosis of HSP. [Extracted from the article]