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First mutation-targeted RNA therapy improves rare ALS case

A man with slowly progressing ALS caused by a rare CHCHD10 mutation showed improved motor-function scores and a biomarker associated with nerve damage returned to the normal reference range one year after receiving a mutation-targeted antisense oligonucleotide treatment.

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Preprint reports brain changes in asymptomatic female XDP carriers

A medRxiv preprint reports striatal atrophy and increased caudate iron accumulation in asymptomatic female carriers of the genetic variant associated with X-linked dystonia-parkinsonism. The findings came from multimodal MRI in 42 carriers compared with 61 healthy controls.