Variability of presynaptic nigrostriatal dopaminergic function and clinical heterogeneity in a dopa-responsive dystonia family with GCH-1 gene mutation. [electronic resource]
- Journal of neurology Mar 2018
- 478-485 p. digital
Publication Type: Case Reports; Journal Article
1432-1459
10.1007/s00415-017-8723-5 doi
Aged Child Corpus Striatum--diagnostic imaging Dopamine--metabolism Dystonic Disorders--diagnostic imaging Family Female GTP Cyclohydrolase--genetics Humans Male Middle Aged Mutation Substantia Nigra--diagnostic imaging Tomography, Emission-Computed, Single-Photon