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Neuropathology of Parkinson's disease with the R1441G mutation in LRRK2

✍ Scribed by José-Félix Martí-Massó; Javier Ruiz-Martínez; Maria J. Bolaño; Irune Ruiz; Ana Gorostidi; Fermin Moreno; Isidre Ferrer; Adolfo López de Munain

Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
348 KB
Volume
24
Category
Article
ISSN
0885-3185

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✦ Synopsis

Abstract

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 α‐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. © 2009 Movement Disorder Society

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