Journal
PARKINSONISM & RELATED DISORDERS
Volume 15, Issue 4, Pages 300-306Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.parkreldis.2008.07.010
Keywords
Nigral degeneration; PARK8; PET
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Funding
- NINDS NIH HHS [P50 NS040256-109003, P50 NS040256] Funding Source: Medline
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [P50NS040256] Funding Source: NIH RePORTER
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Background: Since the causative gene linked to PARK8 parkinsonism was identified as LRRK2, LRRK2 gene mutations have been found to occur in about 4% of patients with hereditary Parkinson disease (PD); this percentage is even higher in certain populations. Moreover, no clear clinical differences between PARK8-linked parkinsonism and sporadic PD have been identified. Neuropathologic findings have been diverse in PARK8 parkinsonism, but few of the clinicopathologic examinations have been performed in the same family tree. We aimed to describe PET and neuropathologic findings in members of the same family tree with PARK8 parkinsonism. Methods: We conducted PET of 2 subjects and neuro pathologically examined 8 subjects in the same family from the Sagamihara district, the original source of PARK8-linked parkinsonism (I2020T mutation). Results: The results of the PET scans were virtually identical to those seen in sporadic PD. The neuropathologic study results showed pure nigral degeneration with no Lewy bodies in 6 cases. One case, however, showed the presence of Lewy bodies and was similar neuropathologically to conventional PD with Lewy bodies. Another case had multiple system atrophy pathology. Conclusions: Our study of PARK8-linked parkinsonism affecting several members of the same pedigree shows that the same gene mutation can induce diverse neuropathologies, even if the clinical picture and PET findings are virtually identical. (C) 2008 Elsevier Ltd. All rights reserved.
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