[18 F]-dopa PET study in patients with juvenile-onset PD and parkin gene mutations.
+Parkin gene mutations cause a form of early-onset autosomal recessive PD with neuronal loss in the substantia nigra and no Lewy bodies. The authors present a PET [18F]-dopa study of one familial and two sporadic cases with juvenile-onset PD resulting from parkin gene mutations. They found a profound decrease of [18F]-dopa uptake, representing 28% of putamen and 44% of caudate nucleus control subject values. PD caused by parkin gene mutations is distinct from idiopathic PD on molecular grounds but has similar clinical and PET findings.
Broussolle
E
E
Department of Neurology, Hôpital Neurologique Pierre Wertheimer, Lyon, France.
Lücking
C B
CB
Ginovart
N
N
Pollak
P
P
Remy
P
P
Dürr
A
A
D000328:Adult; D017668:Age of Onset; D001921:Brain / Q000000981:diagnostic imaging / Q000503:physiopathology; D005260:Female; D006801:Humans; D008025:Ligases; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D020734:Parkinsonian Disorders / Q000000981:diagnostic imaging* / Q000235:genetics / Q000503:physiopathology; D011506:Proteins / Q000235:genetics*; D014055:Tomography, Emission-Computed; D044767:Ubiquitin-Protein Ligases
D011506:Proteins; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases