The nigrostriatal dopaminergic system in familial early onset parkinsonism with parkin mutations.
Nigrostriatal dopaminergic function and cerebral energy metabolism were measured with PET in two brothers with early-onset parkinsonism caused by mutation of the parkin gene. Energy metabolism did not differ, but the nigrostriatal dopaminergic pattern was clearly different than that of sporadic PD. Thus parkinsonism in these two patients was shown to be pathophysiologically different than PD.
Portman
A T
AT
Movement Disorder Unit, Department of Neurology, University Hospital, Groningen, the Netherlands.
Giladi
N
N
Leenders
K L
KL
Maguire
P
P
Veenma-van der Duin
L
L
Swart
J
J
Pruim
J
J
Simon
E S
ES
Hassin-Baer
S
S
Korczyn
A D
AD
D017668:Age of Onset; D001921:Brain / Q000000981:diagnostic imaging; D003342:Corpus Striatum / Q000000981:diagnostic imaging*; D006801:Humans; D008025:Ligases / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000000981:diagnostic imaging / Q000235:genetics*; D013378:Substantia Nigra / Q000000981:diagnostic imaging*; D014055:Tomography, Emission-Computed; D044767:Ubiquitin-Protein Ligases
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases