Loss of TREM2 function impairs phagocytosis and correlates with decreased soluble TREM2 in biological fluids of patients with neurodegenerative disorders.

Genetic analysis has identified several genes and loci as underlying frontotemporal dementia (FTD). These include mutations in the granulin precursor gene (GRN, OMIM 138945)^1,2 and microtubule-associated protein tau gene (MAPT, OMIM 157140).³ Most recently, a hexanucleotide repeat expansion in the noncoding region of the chromosome 9 open reading frame 72 gene (C9ORF72, OMIM 614260) has been shown to be the genetic cause of disease in a group of patients with FTD.^4,5 Nonetheless, a large part of the genetic cause of FTD remains unknown. This is particularly evident in families with ages at onset between 55 and 70 years where mendelian variants in yet to be identified genes are thought to underlie the disease. Because of the low frequency of these variants, they will not be identifiable through genome-wide association studies. Technological advances now allow the analyses of complete exomes and genomes, placing us in a position to study these families. In fact, several recent studies have succeeded in identifying the genetic basis of different disorders by using exome and genome sequencing.^6-9 These studies demonstrate that even by using a small number of samples, it is now possible to uncover genetic alterations not only in mendelian diseases but also in multifactorial complex disorders. This has great clinical utility with major implications for disease gene discovery, diagnosis, and, ultimately, therapeutic approaches.

Background and objectives: The last version of the EFNS dementia guidelines is from 2007. In 2010, the revised guidelines for Alzheimer's disease (AD) were published. The current guidelines involve the revision of the dementia syndromes outside of AD, notably vascular cognitive impairment, frontotemporal lobar degeneration, dementia with Lewy bodies, corticobasal syndrome, progressive supranuclear palsy, Parkinson's disease dementia, Huntington's disease, prion diseases, normal‐pressure hydrocephalus, limbic encephalitis and other toxic and metabolic disorders. The aim is to present a peer‐reviewed evidence‐based statement for the guidance of practice for clinical neurologists, geriatricians, psychiatrists and other specialist physicians responsible for the care of patients with dementing disorders. It represents a statement of minimum desirable standards for practice guidance.Methods: The task force working group reviewed evidence from original research articles, meta‐analyses and systematic reviews, published by June 2011. The evidence was classified (I, II, III, IV) and consensus recommendations graded (A, B, or C) according to the EFNS guidance. Where there was a lack of evidence, but clear consensus, good practice points were provided.Results and conclusions: New recommendations and good practice points are made for clinical diagnosis, blood tests, neuropsychology, neuroimaging, electroencephalography, cerebrospinal fluid (CSF) analysis, genetic testing, disclosure of diagnosis, treatment of behavioural and psychological symptoms in dementia, legal issues, counselling and support for caregivers. All recommendations were revised compared with the previous EFNS guidelines. The specialist neurologist together with primary care physicians play an important role in the assessment, interpretation and treatment of symptoms, disability and needs of dementia patients.

Identifying early-detection biomarkers have become an increasingly important approach in the treatment and prevention of Alzheimer's disease (AD). In this study, we investigated the potential of brain-derived neurotrophic factor (BDNF), complement fa