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Article
Leucine-rich repeat kinase 1: a paralog of LRRK2 and a candidate gene for Parkinson’s disease
Leucine-rich repeat kinase 1 gene (LRRK1) on chromosome 15q26.3 is a paralog of LRRK2 in which multiple substitutions were recently linked to Parkinson’s disease. We have examined the exon–intron structure of the...
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Article
Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions
Leucine-rich repeat kinase 2 (LRRK2) mutation carriers can develop clinical symptoms other than typical parkinsonism such as dementia, amyotrophy or dystonia. To determine if LRRK2 mutati...
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Chapter
Cytokine Polymorphisms and Immunosenescence
The influence of genetics on immunosenescence is still to be resolved. Common genetic variants (polymorphism) that reside within the genes encoding cytokines are candidates to positively or negatively affect i...
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Article
Genetics of ischemic stroke: Inheritance of a sporadic disorder
Stroke is a common neurologic disorder associated with comorbidities such as obesity, hypertension, hypercholesterolemia, and diabetes mellitus. Smoking or being the first-degree relative of a stroke patient c...
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Chapter
Cytokine Expression and Production Changes in Very Old Age
Ageing is associated with various changes in immune parameters, alterations in lymphocyte subsets and cytokine dysregulation (Cossarizza et al. 1997). Cytokines are central to the regulation of the immune-infl...
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Article
DCTN1 mutations in Perry syndrome
Matthew Farrer and colleagues report missense mutations in DCTN1, encoding dynactin, in eight families with Perry syndrome, a neurodegenerative disorder marked by early-onset parkinsonism, depression, severe weig...
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Article
Parkinson disease—moving beyond association
Two genome-wide association studies have independently identified genetic risk factors for Parkinson disease (PD). One study, conducted in individuals of European ancestry, provides further evidence for an ass...
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Article
Copy number variation in Parkinson's disease
A central theme of human genetic studies is to understand genomic variation and how this underlies the inherited basis of disease. Genomic variation can provide increased biological understanding of disease pr...
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Article
LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease
Genetic variation in the leucine-rich repeat and Ig domain containing 1 gene (LINGO1) was recently associated with an increased risk of develo** essential tremor (ET) and Parkinson disease (PD). Herein, we perf...
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Article
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids
Rosa Rademakers and colleagues show that mutations in CSF1R cause hereditary diffuse leukoencephalopathy with spheroids, a central nervous system white-matter disease with variable clinical presentations that inc...
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Article
Open AccessPolymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study
There are no known causes for progressive supranuclear palsy (PSP). The microtubule associated protein tau (MAPT) H1 haplotype is the major genetic factor associated with risk of PSP, with both oxidative stress a...
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Article
Open AccessGlutathione S-transferase omega genes in Alzheimer and Parkinson disease risk, age-at-diagnosis and brain gene expression: an association study with mechanistic implications
Glutathione S-transferase omega-1 and 2 genes (GSTO1, GSTO2), residing within an Alzheimer and Parkinson disease (AD and PD) linkage region, have diverse functions including mitigation of oxidative stress and may...
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Article
Neuropathologically defined subtypes of Alzheimer’s disease differ significantly from neurofibrillary tangle-predominant dementia
Alzheimer’s disease (AD) can be classified based on the relative density of neurofibrillary tangles (NFTs) in the hippocampus and association cortices into three subtypes: typical AD, hippocampal-sparing AD (H...
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Article
A Prognostic View on the Application of Individualized Genomics in Parkinson’s Disease
Parkinson’s disease is a common age-related progressive neurodegenerative disorder. Over the last 15 years, advances have been made in our understanding of the etiology of the disease, with the greatest insigh...
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Article
Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia
We recently reported a missense mutation and four variants in eukaryotic translation initiation factor 4-gamma (EIF4G1) associated with parkinsonism, dementia or both. In those with a positive family history, the...
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Article
Open AccessTREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson’s disease
A rare variant in the Triggering Receptor Expressed on Myeloid cells 2 (TREM2) gene has been reported to be a genetic risk factor for Alzheimer’s disease by two independent groups (Odds ratio between 2.9-4.5). Gi...
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Article
Open AccessMitochondrial J haplogroup is associated with lower blood pressure and anti-oxidant status: findings in octo/nonagenarians from the BELFAST Study
Mitochondria produce cellular energy but also free-radicals, which damage cells despite an array of endogenous anti-oxidants. In Northern Europe, the mitochondrial haplogroup J has been related to longevity in...
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Article
Open AccessKiller Immunoglobulin-like Receptors (KIR) haplogroups A and B track with Natural Killer Cells and Cytokine Profile in Aged Subjects: Observations from Octo/Nonagenarians in the Belfast Elderly Longitudinal Free-living Aging STudy (BELFAST)
Natural Killer Cells (NK) play an important role in detection and elimination of virus-infected, damaged or cancer cells. NK cell function is guided by expression of Killer Immunoglobulin-like Receptors (KIRs)...
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Article
Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration
In order to determine the frequency of microtubule-associated protein tau gene (MAPT) mutations and rare variants in CBD, we performed a systematic sequence analysis of MAPT coding and 3′ untranslated region (3′U...
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Article
Latin America’s first case of Perry syndrome and a new treatment option for respiratory insufficiency
