ST. PAUL, Minn. – Fragile X-associated tremor/ataxia syndrome can be difficult to diagnose and should have guidelines for diagnostic testing, according to a study in the July 26 issue of Neurology, ...
Ataxia-telangiectasia (A-T) is an autosomal recessive chromosome breakage disorder caused by mutations in the ATM gene. Typically, it presents in early childhood with progressive cerebellar ...
Cerebellar ataxia is a condition of the cerebellum that causes an inability to coordinate muscle movements. A study publishing June 16 in Cell Reports now describes a new genetic mutation as an ...
When researchers prescribed mild exercise for mice with a neurodegenerative disorder called spinocerebellar ataxia 1, they did not know what to expect. What they found was the mice that exercised ...
The first patient was a 13-year-old boy born at term to healthy, consanguineous parents with no family history of neurodevelopmental disorder. Pregnancy and labor were unremarkable, and his ...