Stroke and Fabry Disease: A Review of Literature

Mishra, Vinayak; Banerjee, Amit Kumar; Gandhi, Arohi B; Kaleem, Ifrah; Alexander, Josh; Hisbulla, Mohamed; Kannichamy, Vishmita; Subas, Sharathshiva Valaiyaduppu; Hamid, Pousette

doi:10.7759/cureus.12083

Cited by 17 publications

(17 citation statements)

References 44 publications

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“…FD is a lysosomal storage disease due to the accumulation of the sphingolipid globotriaosylceramide (GL-3 or Gb3) and its deacetylated derivative lyso-globotriaosylceramide (lyso-GL-3 or lyso-Gb3). The classic mechanism of stroke in FD includes endothelial dysfunction, higher production of ROS and a prothrombotic state [ 2 , 74 , 75 ]. FD is responsible for less than 1% of cryptogenic ischaemic strokes in young adults.…”

Section: Resultsmentioning

confidence: 99%

“…The onset of the stroke is about 20–50 years. Neuroradiological features of MRI are dolichoectasia of the basilar artery and bilateral T1-weighted hyperintensity of the pulvinar [ 2 , 74 , 75 , 76 , 77 ]. The presented disease is connected to the GLA mutation.…”

Section: Resultsmentioning

confidence: 99%

“…The presented disease is connected to the GLA mutation. Pathogenesis of neurological events in patients with FD is connected to both small and large brain vessel angiopathy due to dysfunction of the endothelium, cerebral hyperperfusion, production of reactive oxygen species and increased tendency to thrombosis [ 74 , 75 , 76 , 77 ].…”

Section: Resultsmentioning

confidence: 99%

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Stroke-like Episodes in Inherited Neurometabolic Disorders

2022

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Stroke-like episodes (SLEs) are significant clinical manifestations of metabolic disorders affecting the central nervous system. Morphological equivalents presented in neuroimaging procedures are described as stroke-like lesions (SLLs). It is crucial to distinguish SLEs from cerebral infarction or intracerebral hemorrhage, mainly due to the variety in management. Another significant issue to underline is the meaning of the main pathogenetic hypotheses in the development of SLEs. The diagnostic process is based on the patient’s medical history, physical and neurological examination, neuroimaging techniques and laboratory and genetic testing. Implementation of treatment is generally symptomatic and includes L-arginine supplementation and adequate antiepileptic management. The main aim of the current review was to summarize the basic and actual knowledge about the occurrence of SLEs in various inherited neurometabolic disorders, discuss the possible pathomechanism of their development, underline the role of neuroimaging in the detection of SLLs and identification of the electroencephalographic patterns as well as histological abnormalities in inherited disorders of metabolism.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

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Stroke-like Episodes in Inherited Neurometabolic Disorders

2022

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“…Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy should be suspected when patients have a family history and migraine with aura [ 45 ]. Complications of heart failure and renal failure, as well as ectasia and elongation of the basilar artery, are helpful for diagnosing Fabry disease [ 46 ]. A genetic approach is also required to further clarify the etiology of stroke in young adults.…”

Section: Discussionmentioning

confidence: 99%

Causes of ischemic stroke in young adults versus non-young adults: A multicenter hospital-based observational study

et al. 2022

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Background Very few comparative studies have focused on the differences in the causes of ischemic stroke between young adults and non-young adults. This study was performed to determine what causes of ischemic stroke are more important in young adults than in non-young adults using a large-scale multicenter hospital-based stroke registry in Fukuoka, Japan. Methods and results We investigated data on 15,860 consecutive patients aged ≥18 years with acute ischemic stroke (mean age: 73.5 ± 12.4 years, 58.2% men) who were hospitalized between 2007 and 2019. In total, 779 patients were categorized as young adults (≤50 years of age). Although vascular risk factors, including hypertension, diabetes mellitus, and dyslipidemia, were less frequent in young adults than in non-young adults, the prevalence of diabetes mellitus and dyslipidemia in young adults aged >40 years were comparable to those of non-young adults. Lifestyle-related risk factors such as smoking, drinking, and obesity were more frequent in young adults than in non-young adults. As young adults became older, the proportions of cardioembolism and stroke of other determined etiologies decreased, but those of large-artery atherosclerosis and small-vessel occlusion increased. Some embolic sources (high-risk sources: arterial myxoma, dilated cardiomyopathy, and intracardiac thrombus; medium-risk sources: atrial septal defect, nonbacterial thrombotic endocarditis, patent foramen ovale, and left ventricular hypokinesis) and uncommon causes (vascular diseases: reversible cerebral vasoconstriction syndrome, moyamoya disease, other vascular causes, arterial dissection, and cerebral venous thrombosis; hematologic diseases: antiphospholipid syndrome and protein S deficiency) were more prevalent in young adults than in non-young adults, and these trends decreased with age. Conclusions Certain embolic sources and uncommon causes may be etiologically important causes of ischemic stroke in young adults. However, the contribution of conventional vascular risk factors and lifestyle-related risk factors is not negligible with advancing age, even in young adults.

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“…Its incidence has historically been estimated at 1:40,000 male live births; however recent data suggests as high as 1:3000 [ 1 ], with a range of 1250–117,000 worldwide [ 2 ]. The symptoms and complications include acroparesthesia, fatigue, anhidrosis, angiokeratomas, gastrointestinal symptoms, kidney failure, cardiovascular problems, and stroke [ 3 , 4 , 5 , 6 , 7 ]. The standard of care treatment is enzyme replacement therapy (ERT) or chaperone therapy (in individuals with amenable GLA mutations).…”

Section: Introductionmentioning

confidence: 99%

Attention Deficits and ADHD Symptoms in Adults with Fabry Disease—A Pilot Investigation

Ali

Caceres

Hall

et al. 2021

JCM

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The present pilot study examines subjective reported symptoms of attention-deficit/hyperactivity (AD/H) in adults with Fabry disease (FD) in comparison with existing normative control data. Existing data from 69 adults with FD via the Achenbach System of Empirically Based Assessment Adult Self-Report questionnaire were analyzed. The results demonstrated a higher prevalence of AD/H symptoms in adults with FD than in the general United States population, with a roughly equal endorsement of Inattention/Attention Deficit symptoms (AD), Hyperactivity-Impulsivity (H-I) symptoms, and Combined Inattention/hyperactivity-impulsivity (C) symptoms. No gender differences were observed. While all subjects endorsing H-I symptoms fell into the symptomatic range on the AD/H scale, only two-thirds of subjects endorsing AD did so. This suggests that attention difficulties with FD are not solely explained by ADHD. Adults with FD who endorsed the AD, H-I, and C symptoms were also more likely to report mean adaptive functioning difficulties. These findings support the growing literature regarding attention difficulties in adults with FD, as well as suggesting a previously unrecognized risk of AD/H symptoms. Future research involving the objective assessment of ADHD in adults with FD is recommended. When serving adults with FD clinically, healthcare professionals should address multiple areas of care, including physical, psychological, and cognitive arenas.

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Stroke and Fabry Disease: A Review of Literature

Cited by 17 publications

References 44 publications

Stroke-like Episodes in Inherited Neurometabolic Disorders

Stroke-like Episodes in Inherited Neurometabolic Disorders

Causes of ischemic stroke in young adults versus non-young adults: A multicenter hospital-based observational study

Attention Deficits and ADHD Symptoms in Adults with Fabry Disease—A Pilot Investigation

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