Neuropathology of Parkinson's disease with the R1441G mutation in LRRK2.
We report the neuropathological findings in a patient with Parkinson's disease (PD) associated with Basque R1441G-LRRK2/dardarin mutation. The patient was a man with disease onset at 68 years of age, with unilateral rest tremor; the Parkinsonism was well controlled with medication for 15 years. He died at the age of 86, after 18 years of evolution. The neuropathological examination disclosed mild neuronal loss in the substantia nigra pars compacta without alpha-synuclein, tau, LRRK2, or ubiquitin cytoplasmic inclusions. Lewy bodies and Lewy neurites were absent. This is the first neuropathological study of PD associated with brain with the R1441G mutation in LRRK2.
Martí-Massó
José-Félix
JF
Department of Neurology, Hospital Donostia, Paseo Dr. Beguiristain s.n, 20014 Donostia, San Sebastián, Gipuzkoa, Spain. jmarti@euskalnet.net
Ruiz-Martínez
Javier
J
Bolaño
Maria J
MJ
Ruiz
Irune
I
Gorostidi
Ana
A
Moreno
Fermin
F
Ferrer
Isidre
I
López de Munain
Adolfo
A
D000368:Aged; D001120:Arginine / Q000235:genetics*; D004252:DNA Mutational Analysis; D005973:Glutamine / Q000235:genetics*; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000378:metabolism; D010300:Parkinson Disease / Q000235:genetics* / Q000473:pathology*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics* / Q000378:metabolism; D013378:Substantia Nigra / Q000378:metabolism / Q000473:pathology; D025801:Ubiquitin / Q000378:metabolism; D038205:beta-Crystallin A Chain / Q000378:metabolism; D016875:tau Proteins / Q000378:metabolism
D009419:Nerve Tissue Proteins; D025801:Ubiquitin; D038205:beta-Crystallin A Chain; D016875:tau Proteins; D005973:Glutamine; D001120:Arginine; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases