ABSTRACT
Objective The objective of this study was to determine whether the CHA2DS2-VASc (congestive heart failure, hypertension, age, diabetes mellitus, stroke, vascular disease, age, sex) score and left atrial diameter (LAD) could predict the presence of cerebral small vessel disease (cSVD) in patients older than 65 years with atrial fibrillation as the cause of ischemic stroke. Materials and methods In this study, we included patients over 65 years of age who had suffered an ischemic stroke caused by atrial fibrillation within 30 days after the onset of symptoms. The data recorded included demographics, electrocardiograms, Holter monitors, and echocardiography reports. The anteroposterior LAD, determined by transthoracic echocardiography, was analyzed. Each patient's CHA2DS2-VASc score was calculated. Brain magnetic resonance imaging (MRI) assessed white matter hyperintensities (WMH) on fluid-attenuated inversion recovery (FLAIR) images and cerebral microbleeds (CMBs) on susceptibility-weighted sequences. The Fazekas score, based on WMH on MRI, was used to grade the severity of gliosis. Participants were categorized into three groups according to their quantitative CMB burden. Findings The study included 60 participants, with a mean age of 80 years (range 65-99), and 43.3% (n = 26) were male. The CHA2DS2-VASc score had a mean value of 4.21 (range 2-8), and the mean LAD was 4.17 (range 2.6-5.3) cm. The CHA2DS2-VASc score did not predict CMBs (OR, 1.389; 95% CI, 0.961-2.008, p = 0.08) in geriatric stroke patients with atrial fibrillation. However, in the subgroup of patients with diabetes mellitus, the CHA2DS2-VASc score was higher in those with CMB 1-4 and CMB ≥ 5 than in those without CMB. Additionally, the risk of CMBs 1-4 increased with higher LAD compared to patients without LAD. Conclusion The LAD and CHA2DS2-VASc scores were not significantly associated with CMB prediction in elderly stroke patients with atrial fibrillation. In a diabetes mellitus subgroup, the CHA2DS2-VASc score was indicative of CMB. An increased LAD elevates the risk of CMBs in patients with coronary artery disease.
ABSTRACT
Background Dilated perivascular spaces (dPVS) in the basal ganglia are associated with aging, vascular risk factors, and other magnetic resonance imaging (MRI) markers of cerebral small vessel disease (cSVD). While high blood lipids are a well-demonstrated risk factor for large artery atherosclerosis, their role in cSVD remains largely elusive. Methods We evaluated lipid profiles, cardiovascular risk factors, and brain MRI findings in patients with ischemic stroke or transient ischemic attack. We analyzed the extent of dPVS, cerebral microbleed (CMB), and cerebral white matter hyperintensities (WMHs) as MRI indices of cSVD and investigated associations of dPVS with lipid parameters and other cSVD indices. Results Our study enrolled 173 patients with ischemic stroke or transient ischemic attack. The mean age was 68.38±14.31 (range 35-99) years, and 57.8% (n=100) of patients were male. dPVSwere detected in 97% (n=168) of the patients. Among the whole population, half of the patients (n=87) had moderate to severe dPVS. According to the univariate analysis, age, hypertension, previous antiaggregant and/or anticoagulant use, and the high-density lipoprotein to low-density lipoprotein (HDL/LDL) ratio but not other lipid profiles, cerebral microbleed load, and cerebral white matter hyperintensities severity were found to be positively associated with dPVS number in the basal ganglia. After multivariate logistic regression analysis, only age and WMH severity remained statistically significant. Conclusions dPVS are closely associated with other cSVD subtypes and aging. The studied lipid indices were not independently associated with moderate to severe dPVS in basal ganglia in ischemic stroke patients. The association of each lipid and HDL/LDL ratio needs to be further studied with a larger number of participants.
ABSTRACT
Here, we aim to provide a comprehensive clinical and biomolecular description of familial amyotrophic lateral sclerosis (fALS) in a 25-year-old female patient with respect to the SOD1A4T genotype. The clinical diagnosis of the disease was based on family history, neurological examination, electroneurophysiological studies, and revised El Escorial criteria. The heterozygous presence of the A4T mutation in the proband was confirmed by PCR coupled with Sanger sequencing of exon 1 of the SOD1 gene. The mutation was introduced in silico into the three-dimensional structure of the native protein. After energy minimization and quality assessment, non-covalent interactions around threonine-4 and changes in protein stability were calculated computationally. The patient differed widely in age at onset, initial neurological symptoms and findings, and survival time from her kindred, in which several members are affected. SOD1A4T-linked fALS in this case had bulbar involvement at onset, a combination of lower and upper motor neuron signs and showed rapid progression. Unlike alanine-4, threonine-4 failed to engage in hydrophobic interactions with the vicinal non-polar amino acids. The overall fold of the modeled SOD1A4T mutant remained intact, but unfolding free energy estimations disclosed a decrease in the protein's stability. We report a phenotypically distinct patient with fALS due to the SOD1A4T mutation and further expand the largest pedigree ever published for SOD1A4T-linked fALS. Genotypeâphenotype correlation in fALS is complex, and it demands detailed clinical investigation and advanced scientific research. Awareness of the broadened phenotypic spectrum might potentially enhance the diagnosis and genetic counseling of fALS.
Subject(s)
Amyotrophic Lateral Sclerosis , Amyotrophic Lateral Sclerosis/genetics , Female , Humans , Mutation , Superoxide Dismutase/genetics , Superoxide Dismutase/metabolism , Superoxide Dismutase-1/genetics , Threonine/geneticsABSTRACT
Glutaric aciduria type I (GA1; OMIM #231670) is an autosomal recessively inherited and treatable disorder characterized by the accumulation and irregular excretion of glutaric acid due to a defect in the glutaryl-CoA dehydrogenase enzyme involved in the catabolic pathways of L-lysine, L-hydroxylysine, and L-tryptophan. Glutaryl-CoA dehydrogenase is encoded by the GCDH gene (OMIM #608801), and several mutations in this gene are known to result in GA1. GA1 usually presents in the first 18-36 months of life with mild or severe acute encephalopathy, movement disorders, and striatal degeneration. Few cases of adult-onset GA1 have been described so far in the literature, often with non-specific and sometimes longstanding neurological symptoms. Since a preventive metabolic treatment is available, neurologists must be aware of this rare but likely underdiagnosed presentation, especially when typical neuroimaging features are identified. Here, we describe 35-year-old presenting with headache and subjective memory problems. There was no history of dystonic movement disorders. Neurological examination and neurocognitive tests were normal. Brain MRI scan revealed white matter abnormalities associated with subependymal nodules and mild frontotemporal hypoplasia suggestive of glutaric aciduria type 1 (GA1). Genetic testing confirmed the presence of homozygous c.1204C > T (p.R402W) variant in the GCDH gene, inherited from heterozygous parents.
Subject(s)
Age of Onset , Amino Acid Metabolism, Inborn Errors/diagnosis , Amino Acid Metabolism, Inborn Errors/genetics , Brain Diseases, Metabolic/diagnosis , Brain Diseases, Metabolic/genetics , Glutaryl-CoA Dehydrogenase/deficiency , Glutaryl-CoA Dehydrogenase/genetics , Adult , Brain/diagnostic imaging , Female , Genetic Association Studies , Glutarates/metabolism , Heterozygote , High-Throughput Nucleotide Sequencing , Homozygote , Humans , Life Style , Magnetic Resonance Imaging , Mutagenesis , Mutation , Pedigree , Phenotype , Prognosis , Risk AssessmentABSTRACT
Cluster headache is the most severe and painful form of primary headache occurring in clusters. Acute treatment may be troublesome in patients resistant to available medications. We present a case of 32-year-old male patient having multiple cluster attacks since four weeks. The neurologic examination showed ipsilateral great occipital nerve (GON) sensitivity. GON blockade was performed using triamcinolone resulting in complete cessation of the attack after the injection. In the presented case GON blockade was used as an effective alternative and safe treatment for cluster headache.
ABSTRACT
The abrupt onset of acute, high-intensity headache, unlike any experienced before, can be an urgent medical condition, which requires attention. A 32-year-old female patient developed thunderclap headache attacks had applied with increasing intensity and frequency since 1 week. She had visited the emergency department several times, and cranial computed tomography findings were normal. On the last presentation, neurological examination showed complete oculomotor nerve palsy on the left. Brain magnetic resonance imaging together with intracranial brain angiography revealed left posterior communicating aneurysm compressing the ipsilateral oculomotor nerve, with no evidence of subarachnoid hemorrhage. The patient was treated with endovascular balloon-assisted coil embolization of the aneurysm under digital subtraction angiography. As a result, the headache resolved soon after the intervention. Furthermore, complete ptosis recovered by the third month. Although thunderclap headache has rarely been attributed to an enlarging unruptured cerebral aneurysm, early recognition and treatment are rather important as it may indicate a high risk of rupture.
Subject(s)
Intracranial Aneurysm/diagnosis , Adult , Angiography, Digital Subtraction , Diagnosis, Differential , Embolization, Therapeutic , Female , Headache Disorders, Primary/etiology , Humans , Intracranial Aneurysm/complications , Intracranial Aneurysm/diagnostic imaging , Intracranial Aneurysm/surgery , Magnetic Resonance Imaging , Tomography, X-Ray ComputedABSTRACT
This study demonstrates the radiologic and clinical findings, etiologies and intervention strategy in 8 acute ischemic stroke patients with tandem occlusions. The mean age was 57 and mean NIHSS score was 19. Stent-assisted thrombectomy (SAT) was performed on all of the patients. Additionally, 6 patients underwent carotid artery stenting before SAT. Recanalization with TICI≥2b was attained in 7/8 patients. The 90thday median mRS was 2 and mortality was 1/8. The etiologies of the tandem occlusions were either extracranial high grade ICA stenosis/occlusion or cervical ICA dissection. When the stent-first approach was applied with distal thrombectomy, high TICI and low mRS scores were obtained.
Subject(s)
Endovascular Procedures/methods , Stents , Stroke/surgery , Thrombectomy/methods , Aged , Endovascular Procedures/instrumentation , Female , Humans , Male , Middle Aged , Thrombectomy/instrumentation , Treatment Outcome , Young AdultABSTRACT
In cases of acute stroke, differentiation between an occluded and a patent internal carotid artery (ICA) is crucial for diagnosis and management. Although CT angiography (CTA) can be highly accurate in defining high-grade stenosis and ICA occlusions, misleading ICA occlusion patterns are not rare in patients with acute stroke. We investigated the underlying causes of ICA pseudo-occlusions with CTA with respect to digital subtraction angiography. 11 out of 72 patients had pseudo-occlusion on CTA. Of these, there were three cases of tandem occlusions accompanying high-grade ICA stenosis, five cases of Distal ICA bifurcation occlusion as a result of atrial fibrillation, two cases of cervical ICA dissection and one acute thrombosis of the stent. Consideration of the aforementioned aetiologies by interventionists is warranted, as it may change the planning of endovascular intervention and treatment of acute stroke.