Rare neurovascular genetic and imaging markers across neurodegenerative diseases.
Alzheimers Dement
; 19(12): 5583-5595, 2023 Dec.
Article
em En
| MEDLINE
| ID: mdl-37272523
ABSTRACT
INTRODUCTION:
Cerebral small vessel disease (SVD) is common in patients with cognitive impairment and neurodegenerative diseases such as Alzheimer's and Parkinson's. This study investigated the burden of magnetic resonance imaging (MRI)-based markers of SVD in patients with neurodegenerative diseases as a function of rare genetic variant carrier status.METHODS:
The Ontario Neurodegenerative Disease Research Initiative study included 520 participants, recruited from 14 tertiary care centers, diagnosed with various neurodegenerative diseases and determined the carrier status of rare non-synonymous variants in five genes (ABCC6, COL4A1/COL4A2, NOTCH3/HTRA1).RESULTS:
NOTCH3/HTRA1 were found to significantly influence SVD neuroimaging outcomes; however, the mechanisms by which these variants contribute to disease progression or worsen clinical correlates are not yet understood.DISCUSSION:
Further studies are needed to develop genetic and imaging neurovascular markers to enhance our understanding of their potential contribution to neurodegenerative diseases.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doenças Neurodegenerativas
/
Doenças de Pequenos Vasos Cerebrais
/
Disfunção Cognitiva
Limite:
Humans
Idioma:
En
Revista:
Alzheimers Dement
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Canadá