Variability of presynaptic nigrostriatal dopaminergic function and clinical heterogeneity in a dopa-responsive dystonia family with GCH-1 gene mutation.

Lin, Juei-Jueng

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