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Total 64 results found since Jan 2013.

Cysteine-Sparing CADASIL Mutations in NOTCH3 Show Proaggregatory Properties In Vitro Clinical Sciences
Conclusions— Our findings support the view that cysteine-sparing mutations, such as D80G, might cause CADASIL with a phenotype largely indistinguishable from cysteine mutations. The in vitro aggregation analysis of atypical NOTCH3 mutations offers novel insights into pathomechanisms and might represent a tool for estimating their clinical significance.
Source: Stroke - February 23, 2015 Category: Neurology Authors: Wollenweber, F. A., Hanecker, P., Bayer-Karpinska, A., Malik, R., Bazner, H., Moreton, F., Muir, K. W., Muller, S., Giese, A., Opherk, C., Dichgans, M., Haffner, C., Duering, M. Tags: Clinical genetics, Cerebrovascular disease/stroke, Other diagnostic testing, Other Vascular biology Clinical Sciences Source Type: research

Presence of decreased Intraepidermal Nerve Fiber Density consistent with Small Fiber Neuropathy in Patients with Central Post-Stroke Pain (P1.050)
CONCLUSIONS: We have demonstrated evidence of decreased ENFD in a small series of patients with CPSP. These findings do not imply causality; however, they do bring up several important questions for further consideration. Does the central nervous system injury associated with stroke result in small fiber neuropathy in certain patients? Are patients with asymptomatic, previously undiagnosed small fiber neuropathy at increased risk for developing CPSP following a stroke? Do these findings have any implication for treatment? Further studies including prospective analyses are necessary to better understand these findings for b...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Yushvayev-Cavalier, Y., Amory, C., Bernardini, G., Argoff, C. Tags: Cerebrovascular Disease and Interventional Neurology: The Spectrum of Small Vessel Cerebrovascular Disease Source Type: research

Bilateral vertebral artery dissection, agenesis of both ICAs, and connective tissue aberrations
A 35-year-old woman presented with acute signs of stroke (appendix e-1 on the Neurology® Web site at www.neurology.org). After initial CT with angiography, MRI with time-of-flight angiography confirmed agenesis of both internal carotid arteries (ICA; figure 1A). It revealed bilateral vertebral artery (VA) dissections and ischemias in both middle artery territories (figure 1, A–E). Skin biopsy microscopy (figure 2) was consistent with ultrastructural connective tissue syndrome (uCTD), for which no further evidence was found apart from mild hypermobility of the finger joints. The underlying uCTD with structural ins...
Source: Neurology - April 8, 2013 Category: Neurology Authors: Lill, C. M., Gunther-Kunkel, K., Hoch, H., Paul, F., Grond-Ginsbach, C., Hausser, I., Zipp, F. Tags: Stroke in young adults, MRI, All Cerebrovascular disease/Stroke, Carotid artery dissection NEUROIMAGES Source Type: research

Misdiagnosis of CADASIL: A single Medical Center experience (P1.251)
Conclusions:CADASIL is the most prevalent monogenic cerebral small-vessel arteriopathy. Despite wide availability of genetic testing, misdiagnosis and delay diagnosis are common. We encourage for enhanced awareness of CADASIL among patients with migraines with aura, recurrent TIAs or subcortical ischemic strokes, and mood disorder, in order to provide appropriate multidisciplinary treatment, psychological support and genetic counselingStudy Supported by: n/aDisclosure: Dr. Ortiz-Garcia has nothing to disclose. Dr. Orjuela has nothing to disclose. Dr. Sweis has nothing to disclose. Dr. Biller has received personal compensat...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Ortiz-Garcia, J., Orjuela, K., Sweis, R., Biller, J. Tags: Genetic Stroke Syndromes, Biomarkers, and Translational/Basic Research Source Type: research

Intravascular large B-cell lymphoma presenting as rapidly progressive dementia and stroke: A case report
Rationale: Intravascular large B-cell lymphoma (IVLBCL) is a rare form of large B-cell non-Hodgkin lymphoma. The diagnosis is challenging and frequently made at biopsy. Here we reported a case of IVLBCL limited to the central nervous system (CNS) presenting with progressive dementia and acute stroke, who was diagnosed by brain biopsy. Patient concerns: A 47-year-old woman was transferred to our hospital with a 6-month history of rapidly progressive dementia, and left limb weakness and numbness for 3 days. She was successively misdiagnosed with inflammatory demyelinating disease and stroke. Her condition deterior...
Source: Medicine - December 3, 2021 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Otitis Media Leads to Brain Abscess Presenting as Stroke
By Mikhail Elfond, DO; Esi Quayson, MD; & Joseph V.M. Kelly, MD, MBA   A 65-year-old man presented to the ED via EMS with symptoms of stroke. The paramedics stated his right-sided weakness and speech difficulty started 40 minutes prior to presentation in the ED. En route to the hospital, paramedics observed four episodes of facial twitching.     Vitals signs were significant for a rectal temperature of 100.2°F and a fingerstick blood sugar of 220 mg/dL. History of present illness was significant for a diagnosis of left otitis media treated with Augmentin and Vicodin at an urgent care center one day prior to prese...
Source: The Case Files - January 20, 2015 Category: Emergency Medicine Tags: Blog Posts Source Type: research

A Case of Recurrent Ischemic Stroke due to Intravascular Lymphomatosis, Undiagnosed by Random Skin Biopsy and Brain Imaging
We report a 68-year-old man who presented with transient ideomotor apraxia and mildly elevated soluble interleukin-2 receptor levels. He was initially diagnosed with aortogenic embolic stroke. He developed rapidly progressive neurological manifestations with enlargement of brain lesions on brain computed tomography and magnetic resonance imaging and died 3 months after symptom onset. The diagnosis of IVL could not be made by random skin biopsy, but was finally made at autopsy. For the early diagnosis, sufficient random skin biopsy or brain biopsy should be planned when suspected.Case Rep Neurol 2017;9:234 –240
Source: Case Reports in Neurology - October 16, 2017 Category: Neurology Source Type: research

Otitis Media Leads to Brain Abscess Presenting as Stroke
By Mikhail Elfond, DO; Esi Quayson, MD; & Joseph V.M. Kelly, MD, MBA A 65-year-old man presented to the ED via EMS with symptoms of stroke. The paramedics stated his right-sided weakness and speech difficulty started 40 minutes prior to presentation in the ED. En route to the hospital, paramedics observed four episodes of facial twitching.       Vitals signs were significant for a rectal temperature of 100.2°F and a fingerstick blood sugar of 220 mg/dL. History of present illness was significant for a diagnosis of left otitis media treated with Augmentin and Vicodin at an urgent care center ...
Source: The Case Files - January 20, 2015 Category: Emergency Medicine Tags: Blog Posts Source Type: research

A Young Woman With A History of Stroke and Recurrent Migraine Headaches
A 34-year-old woman with a history of recurrent migraine without aura headaches, right pontine stroke, and recurrent small vessel subcortical infarcts presented to the emergency department with complaints of intermittent blurry vision and worsening headache. Magnetic resonance imaging of the brain was performed (Figure  1). Three 4-mm punch biopsies were performed on the normal skin of the right upper extremity, and a blood sample was submitted for NOTCH3 (notch receptor 3) genetic testing. Electron microscopy revealed the presence of granular osmiophilic material in the basement membrane of capillary smooth musc le cells...
Source: Mayo Clinic Proceedings - May 31, 2019 Category: Internal Medicine Authors: Emily Carr, Lana Joudeh Tags: Medical image Source Type: research

A Novel Mutation in COL4A1 Gene in a Chinese Family with Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy
We report a novel collagen type IV alpha 1 (COL4A1) gene mutation in a Chinese family with PADMAL. The index case was followed up for 6  years. Neuroimaging, whole-exome sequencing, skin biopsy, and pedigree analysis were performed. She initially presented with minor head injury at age 38. MRI brain showed chronic lacunar infarcts in the pons, left thalamus, and right centrum semiovale. Extensive workup was unremarkable except for a patent foramen ovale (PFO). Despite anticoagulation, PFO closure, and antiplatelet therapy, the patient had recurrent lacunar infarcts in the pons and deep white matter, as well as subcortical...
Source: Translational Stroke Research - August 20, 2021 Category: Neurology Source Type: research

Neurological Involvement in Primary Systemic Vasculitis
Conclusion Neurological involvement is a common complication of PSV (Table 1), and neurologists play an important role in the identification and diagnosis of PSV patients with otherwise unexplained neurological symptoms as their chief complaint. This article summarizes the neurological manifestations of PSV and hopes to improve neuroscientists' understanding of this broad range of diseases. TABLE 1 Table 1. Common CNS and PNS involvements of primary systemic vasculitis. Author Contributions SZ conceived the article and wrote the manuscript. DY and GT reviewed and edited the manuscript. All authors ...
Source: Frontiers in Neurology - April 25, 2019 Category: Neurology Source Type: research

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopthy (CADASIL) in Argentina (P2.123)
ConclusionsTo the best of our knowledge, this is the first cases series of patients with CADASIL in Argentina. Our findings are similar to those reported in the literature for other regions.Study Supported by:Disclosure: Dr. Hawkes has nothing to disclose. Dr. Wilken has nothing to disclose. Dr. Bruno has nothing to disclose. Dr. Pujol Lereis has nothing to disclose. Dr. Povedano has nothing to disclose. Dr. Taratuto has nothing to disclose. Dr. Taratuto has nothing to disclose. Dr. Ameriso has nothing to disclose.
Source: Neurology - April 9, 2014 Category: Neurology Authors: Hawkes, M., Wilken, M., Bruno, V., Pujol Lereis, V., Povedano, G., Lubieniecki, F., Taratuto, A. L., Ameriso, S. Tags: Cerebrovascular Disease and Interventional Neurology: Behavioral, Cognitive, and Miscellaneous Source Type: research

Unusual Symptoms of Coronavirus: What We Know So Far
While most people are familiar with the hallmark symptoms of COVID-19 by now—cough, fever, muscle aches, headaches and difficulty breathing—a new crop of medical conditions are emerging from the more than 4 million confirmed cases of the disease around the world. These include skin rashes, diarrhea, kidney abnormalities and potentially life-threatening blood clots. It’s not unusual for viruses to directly infect and affect different tissues and organs in the body, but it is a bit unusual for a primarily respiratory virus like SARS-CoV-2, which is responsible for COVID-19, to have such a wide-ranging reach...
Source: TIME: Health - May 19, 2020 Category: Consumer Health News Authors: Alice Park Tags: Uncategorized COVID-19 Source Type: news

Sneddon syndrome: a comprehensive clinical review of 53 patients
ConclusionsSS predominantly affects young women with a relatively large number of cardiovascular risk factors. Clinical features of SS are comparable across different studies. We found no differences in the main clinical features between APL-positive and APL-negative patients.
Source: Journal of Neurology - January 29, 2021 Category: Neurology Source Type: research