Genetic Stroke Syndromes

Barrett, Kevin M.; Meschia, James F.

doi:10.1212/01.con.0000446109.20539.68

Cited by 5 publications

(5 citation statements)

References 42 publications

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“…When clinical suspicion is high for an individual syndrome, genetic testing should be considered, as an accurate diagnosis may have therapeutic implications and allow for familial genetic counselling. 51,52 Non-atherosclerotic vasculopathy…”

Section: Genetic Syndromes Associated With Strokementioning

confidence: 99%

A Review of Potential Mechanisms of Cryptogenic Stroke and a Recommended Approach to Diagnosis

Arnold¹

2021

Neurology

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Section: Genetic Syndromes Associated With Strokementioning

confidence: 99%

A Review of Potential Mechanisms of Cryptogenic Stroke and a Recommended Approach to Diagnosis

Arnold¹

2021

Neurology

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“…Approximately 80 % of metastases occur in the cerebral hemispheres. Common clinical presentations include headache, focal neurologic deficits (including hemiplegia), and seizures, partial or generalized [49]. There is nothing particularly distinctive about the headache that accompanies intracranial neoplasm, and it is very uncommon for a brain neoplasm to manifest clinically as headache only [49].…”

Section: Headache Attributed To Intracranial Neoplasmmentioning

confidence: 99%

Hemiplegia and Headache: a Review of Hemiplegia in Headache Disorders

Lopez

Holdridge

Rothrock

2014

Curr Pain Headache Rep

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The most common scenario wherein the practicing neurologist is likely to encounter a patient with headache and hemiplegia will vary depending on his/her specific type of practice. A neurologist providing consultative service to an emergency department is far more likely to see patients with "secondary" headache and hemiplegia in the setting of either ischemic or hemorrhagic stroke than hemiplegia as a transient feature of a primary headache disorder. Neurologists subspecializing in headache medicine who practice in a tertiary referral headache clinic are more likely to encounter hemiplegic migraine, but even in that clinical setting hemiplegic migraine is by no means a frequent diagnosis. The acute onset of hemiplegia can be very frightening not only to the patient but also to the medical personnel. Given the abundance of mimicry, practitioners must judiciously ascertain the correct diagnosis as treatment may greatly vary depending on the cause of both headache and hemiplegia. In this review, we will address the most common causes of hemiplegia associated with headache.

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“…Not surprisingly, the molecular basis of stroke remains partially understood. Pediatric stroke sometimes occurs as part of an inherited genetic syndrome (Barrett and Meschia, 2014), and can follow Mendelian inheritance patterns (Ilinca et al, 2020). Monogenic causes of stroke include CADASIL, homocystinuria, Fabry disease, TREX1 , COL4A1/COL4A2 ‐related syndromes, and others (Chojdak‐Łukasiewicz et al, 2021; Bersano et al, 2021).…”

Section: Introductionmentioning

confidence: 99%

Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis

Kumar

Meng

Liu

et al. 2022

American J of Med Genetics Pt A

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Stroke 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. We 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. Ages 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, homocystinuria caused by CBS mutation, POLG-related disorders, TTC19-linked 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. Although 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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Genetic Stroke Syndromes

Cited by 5 publications

References 42 publications

A Review of Potential Mechanisms of Cryptogenic Stroke and a Recommended Approach to Diagnosis

A Review of Potential Mechanisms of Cryptogenic Stroke and a Recommended Approach to Diagnosis

Hemiplegia and Headache: a Review of Hemiplegia in Headache Disorders

Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis

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