Parkinsonism & related disorders
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Parkinsonism Relat. Disord. · Oct 2013
Neuropathology of dementia in a large cohort of patients with Parkinson's disease.
The aim of our study was to establish the contribution of distinct pathological aggregates (cortical Lewy bodies (LB), neuronal tau-inclusions and β-amyloid plaque (Aβ) deposition) in dementia related to Parkinson's disease (PD) in a large autopsy cohort. We studied the brains of 155 PD patients, 109 of whom were clinically demented. The total LB score, the Braak stages for neurofibrillary tangles (NFT) and the Thal phases for Aβ deposition were assessed in each case, according to previously published guidelines. ⋯ Extensive cortical NFTs associate unavoidably with dementia. Some patients remain cognitively intact despite high cortical LB score. In conclusion, our data strongly support a combining, yet distinct role of neocortical LBs and tau deposits.
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Parkinsonism Relat. Disord. · Oct 2013
Comprehensive LRRK2 and GBA screening in Portuguese patients with Parkinson's disease: identification of a new family with the LRRK2 p.Arg1441His mutation and novel missense variants.
Mutations in the LRRK2 and GBA genes are increasingly recognized as frequent determinants of familial and sporadic Parkinson's disease (PD). However, for several populations, accurate data on the prevalence and types of mutations are not available, because previous studies have not investigated the complete coding regions of these genes in large samples. We studied 312 PD patients ascertained at a single centre in Lisbon, Portugal. ⋯ Gly2019Ser is the most important genetic cause of PD known so far in Portugal and supports the contention that p. Arg1441His is also a PD-causing mutation. These findings have relevance for the genetic testing and counseling of PD patients in this population.