Frontotemporal dementia (FTD) is one of the leading causes of young-onset dementia before age 65, typically manifesting as abnormal behavior (in behavioral variant FTD) or language impairment (in primary progressive aphasia). This perspective paper was produced by two professional interest areas of the Alzheimer’s Association International Society to Advance Alzheimer’s Research and Treatment (ISTAART) and discusses the field’s current status on the cross-cultural aspects of basic and translational research in FTD (including that focused on epidemiology, genetics, biomarkers, and treatment). It subsequently provides a summary of gaps and needs to address the disparities and advance global FTD biomedical research. Click here

CADASIL is the most frequent hereditary cerebral small vessel disease worldwide. The disease is responsible for a slow and progressive accumulation of cerebral ischemic insults that lead to disabling cognitive and motor symptoms at late age. In this study, they aimed to explore the reasons for the initial choices made among people at-risk of CADASIL, but also of the tipping point that could lead people initially uninterested in diagnosis to finally resort to it, including the potential issues related to the participation in a clinical trial. Click here

This study aimed to investigate how individuals experience family communication about potential genetic risk and testing for young onset dementia (YOD). Thematic analysis was performed on verbatim transcripts of nine semi-structured interviews undertaken with family members who attended a neurogenetics clinic due to a relative diagnosed with YOD. The interviews explored the participants’ experiences of learning that YOD might be inherited and the ensuing family communication about genetic testing. Click here

Many families with clinical early-onset Alzheimer’s disease (EOAD) remain genetically unexplained. A combination of genetic factors is not standardly investigated. In addition to monogenic causes, this study evaluated the possible polygenic architecture in a large series of families, to assess if genetic testing of familial EOAD could be expanded. Click here

Frontotemporal dementia (FTD) is a heterogeneous neurodegenerative disorder presenting with distinct changes in behaviour, language and motor function. Despite often being considered as a rare disease, FTD is probably the most common form of dementia experienced in people under the age of 60. This paper provides an update on genetic FTD. Click here

This review summarises data indicating that Alzheimer’s disease is the main medical problem and cause of death in people with Down syndrome. It discusses how the natural history and clinical presentation of Down syndrome associated Alzheimer’s disease is similar to that of autosomal dominant Alzheimer’s disease. It also explains how people with Down syndrome could possibly be the best population in which to conduct Alzheimer’s disease prevention trials.  Click here

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary cerebral small vessel disease caused by mutations in NOTCH3, is characterized by recurrent stroke without vascular risk factors, mood disturbances, and dementia. MRI imaging shows cerebral white matter (WM) hyperintensity, particularly in the external capsule and temporal pole​. From the viewpoint of gain of function apart from Notch signaling or loss of function of Notch signaling, this article reviews the research about CADASIL and summarises the pathogenesis of small vessel, stroke, and dementia in this disease.   Click here

This review provides an overview of the genetic basis of early- onset Alzheimer’s disease (EOAD) and the relationship between the functions of these risk genes and the neuropathologic features of Alzheimer’s disease. A better understanding of genetic mechanisms underlying EOAD pathogenesis and the potentially molecular mechanisms of neurodegeneration will lead to the development of effective diagnosis and treatment strategies for this devastating disease.​ Click here