Year: 2013
Type: article
Abstract: A clear pathologic hallmark like that identified in sporadic Parkinson’s disease (PD) is lacking in many of the monogenic causes of PD. In leucine-rich repeat kinase 2 (LRRK2) mutations (PARK8), alpha-synu-clein pathology in the form of Lewy bodies (LBs) is frequently, but not consistently, observed. Other path-ologies reported in LRRK2 cases include tau inclu-sions of the Alzheimer, progressive supranuclear palsy, and frontotemporal lobar degeneration types, and TAR DNA-binding protein 43 (TDP-43) inclusions.1 There has been only a single report of a compound heterozygous, phosphatase and tensin homolog (PTEN)-induced, putative kinase 1 (PINK1; PARK6) patient coming to autopsy.2 That patient presented with asymmetrical rigidity at age 31 years and had a
Source: Movement Disorders
DOI: 10.1002/mds.25486
Authors: Karen M. Doherty, John Hardy
Language: English
Subfield: Clinical Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $4,480
Funders: Wellcome Trust, Medical Research Council
OpenAlex ID: W1828580903