Heritable and non-heritable uncommon causes of stroke

Bersano, Anna; Kraemer, Markus; Burlina, Alessandro P.; Mancuso, Michelangelo; Finsterer, Josef; Sacco, Simona; Salvarani, Carlo; Caputi, Luigi; Chabriat, Hugues; Oberstein, S. Lesnik; Federico, Antonio; Lasserve, Elisabeth Tournier; Hunt, David; Dichgans, Martin; Arnold, Marcel; Debette, Stéphanie; Markus, Hugh S.

doi:10.1007/s00415-020-09836-x

Cited by 42 publications

(34 citation statements)

References 190 publications

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“…Clinical symptoms include young or mid-adult onset of recurrent strokes, migraine with aura, progressing dementia, apathy and psychiatric disorders. Diffuse white matter hyperintensities, external capsule and temporal poles involvement and subcortical infarcts are typical neuroimaging findings [ 23 ]. CADASIL is diagnosed either by molecular genetic testing or by skin biopsy, detecting characteristic findings by electron microscope and immunohistochemistry.…”

Section: Known Monogenic Disordersmentioning

confidence: 99%

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Ischemic Stroke Genetics: What Is New and How to Apply It in Clinical Practice?

Ekkert,

Šliachtenko,

Grigaitė

et al. 2021

Genes

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The etiology of ischemic stroke is multifactorial. Although receiving less emphasis, genetic causes make a significant contribution to ischemic stroke genesis, especially in early-onset stroke. Several stroke classification systems based on genetic information corresponding to various stroke phenotypes were proposed. Twin and family history studies, as well as candidate gene approach, are common methods to discover genetic causes of stroke, however, both have their own limitations. Genome-wide association studies and next generation sequencing are more efficient, promising and increasingly used for daily diagnostics. Some monogenic disorders, despite covering only about 7% of stroke etiology, may cause well-known clinical manifestations that include stroke. Polygenic disorders are more frequent, causing about 38% of all ischemic strokes, and their identification is a rapidly developing field of modern stroke genetics. Current advances in human genetics provide opportunity for personalized prevention of stroke and novel treatment possibilities. Genetic risk scores (GRS) and extended polygenic risk scores (PRS) estimate cumulative contribution of known genetic factors to a specific outcome of stroke. Combining those scores with clinical information and risk factor profiles might result in better primary stroke prevention. Some authors encourage the use of stroke gene panels for stroke risk evaluation and further stroke research. Moreover, new biomarkers for stroke genetic causes and novel targets for gene therapy are on the horizon. In this article, we summarize the latest evidence and perspectives of ischemic stroke genetics that could be of interest to the practitioner and useful for day-to-day clinical work.

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Section: Known Monogenic Disordersmentioning

confidence: 99%

“…Only about 50 cases of CARASIL have been reported, mainly in Japanese males between 20–50 years [ 25 , 26 ]. Beside recurrent strokes, this disease usually manifest in premature head alopecia (about 90%), early vascular dementia and severe back pain with lumbar disk herniation [ 23 ].…”

Section: Known Monogenic Disordersmentioning

confidence: 99%

Ischemic Stroke Genetics: What Is New and How to Apply It in Clinical Practice?

Ekkert,

Šliachtenko,

Grigaitė

et al. 2021

Genes

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“…Pediatric stroke sometimes occurs as part of an inherited genetic syndrome[2], and can follow Mendelian inheritance patterns[3]. Monogenic causes of stroke include CADASIL, homocystinuria, Fabry disease, TREX1, COL4A1/COL4A2 -related syndromes, and others[4, 5]. One study of 38 patients with pediatric and perinatal stroke diagnosed 10% of cases using a panel of 15 genes focused on Mendelian causes of stroke[6].…”

Section: Introductionmentioning

confidence: 99%

Clinical exome sequencing for stroke evaluation uncovers a high frequency of Mendelian disorders: a retrospective analysis

Kumar

Meng

Liu

et al. 2022

Preprint

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BackgroundStroke causes significant disability and is a common cause of death worldwide. Previous studies have estimated that 1-5% of stroke is attributable to monogenic etiologies. We set out to assess the utility of clinical exome sequencing (ES) in the evaluation of stroke.MethodsWe retrospectively analyzed 124 individuals who received ES at the Baylor Genetics reference lab between 2012 and 2021 who had stroke as a major part of their reported phenotype.ResultsAges ranged from 10 days to 69 years. 8.9% of the cohort received a diagnosis, including 25% of infants less than 1 year old; an additional 10.5% of the cohort received a probable diagnosis. We identified several syndromes that predispose to stroke such as COL4A1-related brain small vessel disease, CBS-related homocystinuria, POLG-related disorders, TTC19-related mitochondrial disease, and RNASEH2A associated Aicardi-Goutieres syndrome. We also observed pathogenic variants in NSD1, PKHD1, HRAS and ATP13A2, which are genes rarely associated with stroke.ConclusionsAlthough stroke is a complex phenotype with varying pathologies and risk factors, these results show that use of exome sequencing can be highly relevant in stroke, especially for those presenting <1 year of age.

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“…It is a group of diseases that cause brain tissue damage due to sudden rupture of blood vessels in the brain or the inability of blood to flow into the brain due to vascular obstruction, including ischemic and hemorrhagic stroke [1][2][3]. Statistically, the incidence of ischemic stroke is higher than that of hemorrhagic stroke, accounting for about 65% of all strokes [4,5]. Stroke occurs in people more than 40 years old, more men than women; in severe cases, it can cause death.…”

Section: Introductionmentioning

confidence: 99%

Diagnostic Value of Image Features of Magnetic Resonance Imaging in Intracranial Hemorrhage and Cerebral Infarction

Tang

Zeng

Zhao

2022

Contrast Media & Molecular Imaging

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This study aimed to investigate the differential diagnosis value of routine magnetic resonance imaging (MRI) and magnetic resonance diffusion-weighted imaging (DWI) in hyperacute intracranial hemorrhage (HICH) and hyperacute cerebral infarction (HCI). Fifty-five patients with HICH were set as group A, and 55 patients with HCI were selected as group B. All the patients underwent routine MRI and DWI examinations. The morphological distribution and signal characteristics (low, high, or mixed) of the lesions in the two groups were recorded. The diagnostic accuracy, sensitivity, and specificity of routine MRI and DWI were compared for distinguishing HICH and HCI. The results suggested that the lesions in patients with HICH were mainly manifested as mixed signals (40 cases), while those in patients with HCI showed high signals (48 cases). HICH occurred in the basal ganglia in 44 cases, in the brain stem in 6 cases, in the cerebellum in 4 cases, in the cerebral cortex in 0 cases, and in the corpus callosum in 1 case. HCI occurred in the basal ganglia area, brain stem, cerebellum, cerebral cortex, and corpus callosum in 5, 3, 35, 12, and 0 cases, respectively. The diagnostic accuracy, specificity, and sensitivity of DWI for HICH and HCI were significantly higher than those of routine MRI P < 0.05 . It was indicated that compared with routine MRI, DWI was more effective in the diagnosis of HICH and HCI, with clearer and more accurate images and better diagnostic performance.

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Heritable and non-heritable uncommon causes of stroke

Cited by 42 publications

References 190 publications

Ischemic Stroke Genetics: What Is New and How to Apply It in Clinical Practice?

Ischemic Stroke Genetics: What Is New and How to Apply It in Clinical Practice?

Clinical exome sequencing for stroke evaluation uncovers a high frequency of Mendelian disorders: a retrospective analysis

Diagnostic Value of Image Features of Magnetic Resonance Imaging in Intracranial Hemorrhage and Cerebral Infarction

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