期刊
NEUROBIOLOGY OF AGING
卷 33, 期 4, 页码 814-823出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2010.05.009
关键词
PLA2G6; PANK2; Lewy bodies; tau; parkinsonism
资金
- Bachmann Strauss Foundation
- Medical Research Council (MRC) [G108/638, G0802760]
- Michael J. Fox Foundation
- Brain Research Trust
- Ataxia UK
- BMA, Vera Down Award
- Sarah Matheson Trust for MSA
- Alzheimer's Research Trust
- Reta Lila Weston Institute
- Progressive Supranuclear Palsy (Europe) Association
- NIHR UCLH/UCL Comprehensive Biomedical Research Centre
- Alzheimers Research UK [ART-PPG2011A-14] Funding Source: researchfish
- Medical Research Council [G1001253, G0802760, G0701075, MC_G1000735, G108/638] Funding Source: researchfish
- Parkinson's UK [G-0907] Funding Source: researchfish
- MRC [G0701075, G108/638, G1001253, G0802760, MC_G1000735] Funding Source: UKRI
The 2 major types of neurodegeneration with brain iron accumulation (NBIA) are the pantothenate kinase type 2 (PANK2)-associated neurodegeneration (PKAN) and NBIA2 or infantile neuroaxonal dystrophy (INAD) due to mutations in the phospholipase A2, group VI (PLA2G6) gene. We have recently demonstrated clinical heterogeneity in patients with mutations in the PLA2G6 gene by identifying a poorly defined subgroup of patients who present late with dystonia and parkinsonism. We report the clinical and genetic features of 7 cases with PLA2G6 mutations. Brain was available in 5 cases with an age of death ranging from 8 to 36 years and showed widespread alpha-synuclein-positive Lewy pathology, which was particularly severe in the neocortex, indicating that the Lewy pathology spread corresponded to Braak stage 6 and was that of the diffuse neocortical type. In 3 cases there was hyperphosphorylated tau accumulation in both cellular processes as threads and neuronal perikarya as pretangles and neurofibrillary tangles. Later onset cases tended to have less tau involvement but still severe alpha-synuclein pathology. The clinical and neuropathological features clearly represent a link between PLA2G6 and parkinsonian disorders. (C) 2012 Elsevier Inc. All rights reserved.
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