An update on genetic frontotemporal dementia

AbstractFrontotemporal dementia (FTD) is a highly heritable group of neurodegenerative disorders, with around 30% of patients having a strong family history. The majority of that heritability is accounted for by autosomal dominant mutations in the chromosome 9 open reading frame 72 (C9orf72), progranulin (GRN), and microtubule-associated protein tau (MAPT) genes, with mutations more rarely seen in a number of other genes. This review will discuss the recent updates in the field of genetic FTD. Age at symptom onset in genetic FTD is variable with recently identified genetic modifiers includingTMEM106B (inGRN carriers particularly) and a polymorphism at a locus containing two overlapping genesLOC101929163 andC6orf10 (inC9orf72 carriers). Behavioural variant FTD (bvFTD) is the most common diagnosis in each of the genetic groups, although inC9orf72 carriers amyotrophic lateral sclerosis either alone, or with bvFTD, is also common. An atypical neuropsychiatric presentation is also seen inC9orf72 carriers and family members of carriers are at greater risk of psychiatric disorders including schizophrenia and autistic spectrum disorders. Large natural history studies of presymptomatic genetic FTD are now underway both in Europe/Canada (GENFI —the Genetic FTD Initiative) and in the US (ARTFL/LEFFTDS study), collaborating together under the banner of the FTD Prevention Initiative (FPI). These studies are taking forward the validation of cognitive, imaging and fluid biomarkers tha...
Source: Journal of Neurology - Category: Neurology Source Type: research

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Authors: Druschky K, Bleich S, Grohmann R, Engel RR, Toto S, Neyazi A, Däubl B, Stübner S Abstract The aim of the study was to assess rates of severe parkinsonism related to different antipsychotic drugs (APDs) using data from an observational pharmacovigilance programme in German-speaking countries-Arzneimittelsicherheit in der Psychiatrie (AMSP). Data on APD utilization and reports of severe APD-induced parkinsonism were collected in 99 psychiatric hospitals in Austria, Germany and Switzerland during the period 2001-2016. Of 340,099 patients under surveillance, 245,958 patients were treated with APDs fo...
Source: European Archives of Psychiatry and Clinical Neuroscience - Category: Psychiatry Tags: Eur Arch Psychiatry Clin Neurosci Source Type: research
Authors: PMID: 31444565 [PubMed - as supplied by publisher]
Source: European Archives of Psychiatry and Clinical Neuroscience - Category: Psychiatry Tags: Eur Arch Psychiatry Clin Neurosci Source Type: research
CONCLUSIONS: Results of this study suggest that those who participate in a weight management program can lose significant amounts of weight regardless of psychiatric medication use. PMID: 31441235 [PubMed - in process]
Source: Obesity - Category: Eating Disorders & Weight Management Authors: Tags: Obesity (Silver Spring) Source Type: research
Conclusions: Neurocutaneous syndromes are clinically heterogeneous and the surveillance of potential clinical complications is challenging. The availability of genetic diagnosis and novel imaging methods in this group of disorders is likely to further expand their clinical spectrum. Guidelines for assessment and management will need to be modified based on new available data. PMID: 31443616 [PubMed - as supplied by publisher]
Source: Postgraduate Medicine - Category: Internal Medicine Tags: Postgrad Med Source Type: research
Publication date: Available online 24 August 2019Source: Ticks and Tick-borne DiseasesAuthor(s): Muhammad G. Morshed, Andrias Hojgaard, Min-Kuang Lee, Lynn M. Osikowicz, Lars EisenAbstract'Candidatus Ehrlichia khabarensis' was first described from rodents and insectivores in the Far East territory of Khabarovsk on the Russian Pacific Coast. Here we report the detection of DNA from this microorganism in rodents and fed ticks collected from rodents in British Columbia, Canada in 2013-2014. 'Candidatus Ehrlichia khabarensis' was detected in (i) a female Ixodes angustus tick collected from a Peromyscus maniculatus; (ii) a fema...
Source: Ticks and Tick borne Diseases - Category: Zoology Source Type: research
Authors: Young TK, Bjerregaard P Abstract Despite the importance of indigenous people in the Arctic, there is no accurate estimate of their size and distribution. We defined indigenous people as those groups represented by the "permanent participants" of the Arctic Council. The census in Canada, Russia and the United States records status as an indigenous person. In Greenland, a proxy measure is place of birth supplemented by other information. For the Nordic countries we utilized a variety of sources including registered voters' lists of the various Sami parliaments and research studies that established ...
Source: International Journal of Circumpolar Health - Category: International Medicine & Public Health Tags: Int J Circumpolar Health Source Type: research
CONCLUSIONS: Despite relatively early ART initiation, there is a substantial burden of multisystem chronic impairment among PHIV+ adolescents. This phenomenon needs to be further explored as this population ages and begins to engage in adult lifestyle factors that may compound these impairments. PMID: 31441211 [PubMed - in process]
Source: Journal of the International AIDS Society - Category: Infectious Diseases Tags: J Int AIDS Soc Source Type: research
We're living in an era in which the credibility of scientific evidence is sometimes challenged —think climate change1—and important research findings don't always impact practice and policy. Regarding the latter point, it remains common to hear nurses who work in long-term care presume the presence of a urinary tract infection when a resident's urine has an offensive odor (despite guideli nes to the contrary)2, and to use antipsychotics for residents with dementia (despite Food and Drug Administration black-box warnings to the contrary).
Source: Journal of the American Medical Directors Association - Category: Health Management Authors: Tags: Editorial Source Type: research
Cognitive testing at the age of 3 can predict how healthy a person ’s brain will be in their mid 40s, and may indicate whether they are likely to develop dementia
Source: New Scientist - Health - Category: Consumer Health News Source Type: research
Fight Aging! provides a weekly digest of news and commentary for thousands of subscribers interested in the latest longevity science: progress towards the medical control of aging in order to prevent age-related frailty, suffering, and disease, as well as improvements in the present understanding of what works and what doesn't work when it comes to extending healthy life. Expect to see summaries of recent advances in medical research, news from the scientific community, advocacy and fundraising initiatives to help speed work on the repair and reversal of aging, links to online resources, and much more. This content is...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
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