6533b838fe1ef96bd12a4672

RESEARCH PRODUCT

Clinical and neuroimaging characterization of two C9orf72-positive siblings with amyotrophic lateral sclerosis and schizophrenia

Fernando CardonaAna SabaterJuan J. VílchezEva BeltránPablo SopenaJordi Pérez-turTeresa SevillaJuan F. Vázquez-costa

subject

0301 basic medicineNeuroimaging03 medical and health sciences0302 clinical medicineNeuroimagingC9orf72mental disordersHumansMedicineAmyotrophic lateral sclerosisC9orf72 Proteinbusiness.industrySiblingsAmyotrophic Lateral SclerosisProteinsMiddle Agedmedicine.diseaseC9orf72 Protein030104 developmental biologyNeurologySchizophreniaMutationMutation (genetic algorithm)SchizophreniaFemaleNeurology (clinical)businessNeuroscience030217 neurology & neurosurgeryFrontotemporal dementia

description

C9orf72 expansion is the main genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) and has also been found in a wide spectrum of other neurodegenerative diseases (...

https://doi.org/10.3109/21678421.2015.1112407