Autosomal dominant parkinsonism associated with variable synuclein and tau pathology.
Since the original 1995 report of a parkinsonian kindred, four individuals have been affected (mean age at onset, 65 years). All four had cardinal signs of Parkinson disease (PD) and good response to levodopa. Four autopsies showed neuronal loss and gliosis in the substantia nigra. Lewy bodies (LB) limited to brainstem nuclei were detected in one case, diffuse LB in the second, neurofibrillary tangles (NFT) without LB in the third, and neither NFT nor LB in the fourth. Genetic studies suggested linkage to the PARK8 locus on chromosome 12.
Wszolek
Z K
ZK
Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA.
Pfeiffer
R F
RF
Tsuboi
Y
Y
Uitti
R J
RJ
McComb
R D
RD
Stoessl
A J
AJ
Strongosky
A J
AJ
Zimprich
A
A
Müller-Myhsok
B
B
Farrer
M J
MJ
Gasser
T
T
Calne
D B
DB
Dickson
D W
DW
D000368:Aged; D001921:Brain / Q000473:pathology; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D005190:Family; D005260:Female; D005500:Follow-Up Studies; D008040:Genetic Linkage; D014644:Genetic Variation; D006801:Humans; D007150:Immunohistochemistry; D016631:Lewy Bodies / Q000473:pathology; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D013378:Substantia Nigra / Q000473:pathology; D051843:Synucleins; D024801:Tauopathies / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics; D016875:tau Proteins / Q000235:genetics
D009419:Nerve Tissue Proteins; D051843:Synucleins; D016875:tau Proteins; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein