Autosomal dominantly inherited mutations in the GTP cyclohydrolase 1 (GCH1) gene are associated with dopamine-responsive dystonia (DRD), also known as DYT5. Rare atypical presentations have been described,2 including adulthood Parkinson disease (PD) with in vivo evidence of nigrostriatal degeneration
Expanding the clinical phenotype of DYT5 mutations: is multiple system atrophy a possible one?
CERAVOLO, ROBERTO;NICOLETTI, VALENTINA;KIFERLE, LORENZO;BONUCCELLI, UBALDO
2013-01-01
Abstract
Autosomal dominantly inherited mutations in the GTP cyclohydrolase 1 (GCH1) gene are associated with dopamine-responsive dystonia (DRD), also known as DYT5. Rare atypical presentations have been described,2 including adulthood Parkinson disease (PD) with in vivo evidence of nigrostriatal degenerationFile in questo prodotto:
Non ci sono file associati a questo prodotto.
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
