Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27.
Martin PaucarJ LundinT AlshammariÅ BergendalM LindefeldtM AlshammariG SoldersJ Di ReI SavitchevaT GranbergF LaezzaE IwarssonP SvenningssonPublished in: Journal of internal medicine (2020)
This is the second largest SCA27 family identified to date. We provide new clinical and preclinical evidence for a significant psychiatric component in SCA27, strengthening the hypothesis of FGF14 as an important modulator of psychiatric disease.