A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)

SanjayBudhdeo; Anderson Rodrigues Brand?ode Paiva; CharlesWadeLaura Cardia GomesLopesBrunoDella-RipaIndranDavagnanamLeandroLucatoCatherine J.MummeryFernandoKokHenryHouldenDavid J.WerringDavid S.Lynch

首页> 外文期刊>Journal of neurology >A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)

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A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)

机译：A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)

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Abstract Background Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL) is a rare monogenic cause of cerebral small vessel disease. To date, fewer than 15 patients with CARASAL have been described, all of common European ancestry.Methods Clinical and imaging phenotypes of two patients are presented. Genetic variants were identified using targeted Sanger and focused exome sequencing, respectively.Results Both patients carried the same pathogenic p.Arg325Cys mutation in CTSA. One patient of Chinese ethnicity presented with migraine, tinnitus and slowly progressive cognitive impairment with significant cerebral small vessel disease in the absence of typical cardiovascular risk factors. She later suffered an ischaemic stroke. A second patient from Brazil, of Italian ethnicity developed progressive dysphagia and dysarthria in his 50s, he later developed hearing loss and chronic disequilibrium. Magnetic resonance imaging in both cases demonstrated extensive signal change in the deep cerebral white matter, anterior temporal lobes, thalami, internal and external capsules and brainstem.Conclusions CARASAL should be considered in patients with early onset or severe cerebral small vessel disease, particularly where there are prominent symptoms or signs related to brainstem involvement, such as hearing dysfunction, tinnitus or dysphagia or where there is significant thalamic and brainstem involvement on imaging.

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《Journal of neurology》 |2022年第12期|6673-6677|共5页
作者
SanjayBudhdeo; Anderson Rodrigues Brand?ode Paiva; CharlesWadeLaura Cardia GomesLopesBrunoDella-RipaIndranDavagnanamLeandroLucatoCatherine J.MummeryFernandoKokHenryHouldenDavid J.WerringDavid S.Lynch;
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作者单位

Department for Clinical and Movement Neurosciences,UCL Queen Square Institute of Neurology;

Neurology Department,Neurogenetics Unit, Hospital das Clínicas da Faculdade de Medicina da;

National Hospital for Neurology and NeurosurgeryDepartment of Neurology, Psychology and Psychiatry,Universidade Estadual de S?o Paulo (UNESP)Lysholm Department of Neuroradiology,UCL Queen Square Institute of Neurology and National HospitalDiagnostic Neuroradiology Section,Hospital das Clínicas da Faculdade de Medicina da Universidade deDementia Research Centre, Department of Neurodegenerative Disease,National Hospital for NeurologyDepartment of Neuromuscular Disease,UCL Queen Square Institute of NeurologyStroke Research Centre,UCL Queen Square Institute of Neurology;

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正文语种英语
中图分类神经病学;
关键词
Stroke; Genetics; Small vessel disease; CARASAL; Leukoencephalopathy;

A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)

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