Cerebral circulation - cognition and behavior最新文献

Introduction

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a rare genetic condition with a broad phenotypic presentation. This study aims to establish the first Australian cohort of individuals affected by CADASIL (AusCADASIL) and examine its clinical features and longitudinal course, and to investigate neuroimaging and blood biomarkers to assist in early diagnosis and identify disease progression.

Methods

Participants will be recruited from six study centres across Australia for an observational study of CADASIL. We aim to recruit 150 participants with diagnosed CADASIL, family history of CADASIL or suspected CADASIL symptoms, and 150 cognitively normal NOTCH3 negative individuals as controls. Participants will complete: 1) online questionnaires on medical and family history, mental health, and wellbeing; 2) neuropsychological evaluation; 3) neurological examination and brain MRI; 4) ocular examination and 5) blood sample donation. Participants will have annual follow-up for 4 years to assess their progression and will be asked to invite a study partner to corroborate their self-reported cognitive and functional abilities.

Primary outcomes include cognitive function and neuroimaging abnormalities. Secondary outcomes include investigation of genetics and blood and ocular biomarkers. Data from the cohort will contribute to an international consortium, and cohort participants will be invited to access future treatment/health intervention trials.

Discussion

AusCADASIL will be the first study of an Australian cohort of individuals with CADASIL. The study will identify common pathogenic variants in this cohort, and characterise the pattern of clinical presentation and longitudinal progression, including imaging features, blood and ocular biomarkers and cognitive profile.

Background

Cerebral small vessel disease (SVD) is a common neurological disorder contributing to stroke, dementia, and disability. No treatment options exist although clinical trials are ongoing. We aimed to understand what matters to people and families affected by SVD to inform future research.

Methods

We thematically analysed unsolicited correspondences from members of the public addressed to members of the Edinburgh SVD Research Group on a variety of subjects related to SVD. We used inductive thematic codes, categorised under concerns, requests, emotions, and contributions, to form a grounded theory that categorised and ranked concerns raised.

Results

101 correspondents expressed 346 concerns between August 2015 and February 2021, mostly via email. 60 correspondents (59.4 %) disclosed a SVD diagnosis, 39 (38.6 %) disclosed a previous stroke or TIA, and 40 (39.6 %) were family of people living with SVD. Primary concerns related to cognitive problems (number of correspondents (n)=43 (42.6 %)), lack of support or information from healthcare services (n = 41 (40.6 %)), prognosis (n = 37 (36.6 %)), sensory disturbances (n = 27 (26.7 %)), functional problems (n = 24, (23.8 %)), impact on daily life (n = 24 (23.8 %)), and causes of SVD (n = 19 (18.8 %)). 57 correspondents (56.4 %) expressed support for research, 43 (42.6 %) expressed an eagerness to understand SVD, 35 (34.7 %) expressed helplessness, and 19 (18.8 %) expressed frustration.

Conclusions

Cognitive decline was the main concern for people and families living with SVD who corresponded with the Edinburgh SVD research group. These findings also indicate a need for more accessible services and better information about SVD for patients and families.

The call to optimize brain health is now a local, regional and global priority. Organizations such as the World Health Organization, Centers for Disease Control and Prevention and Alzheimer's Association, American Academy of Neurology, World Federation of Neurology, and others have developed recommendations for the maintenance of brain health. Brain health definitions range from broad to narrow in scope and may focus on cognition or encompass broader core components such as cerebral, mental and social domains. In this manuscript we will explore various definitions of brain health and its core components, the importance of cognitive and functional domains, and briefly introduce the concept of cognitive medicine in the context of brain health.