Researchers have identified a new, rare neurodevelopmental disorder associated with a homozygous mutation in the PRDM13 gene. Features of the disorder included intellectual disabilities, ataxia with cerebellar hypoplasia, and delayed puberty with hypogonadotropic hypogonadism.
Study connects enterovirus A71, which causes Hand, Foot, and Mouth Disease, to a large outbreak of neurological illness in the U.S in 2018. Symptoms of the virus include myoclonus, ataxia, weakness, and autonomic instability.
Dysfunction of the Golgi apparatus is associated with axatia and developmental delays.
Researchers have identified a new neurodegenerative disease that is caused by a genetic mutation that disrupts DNA repair.
Researchers have presented the first known case of a patient experiencing hemorrhagic stroke following consumption of an energy drink.
Researchers have succeeded in creating a new model system that can be used to develop drug therapies for genetic disorders like spinocerebellar ataxia type 6.
Researchers have discovered a new mutation responsible for spinocerebellar ataxia, an often fatal movement disorder.
According to a new study, a protein implicated in some neurological diseases also plays an important role in how our bodies respond to viral infections.
Researchers use RNAi to reveal dozens of genes which could represent new therapeutic targets for treating Parkinson's disease.