• Filter By:
• Specialty
• Source
• Condition
• Cancer
• Infectious Disease
• Drug
• Training
• Management
• Procedure
• Therapy
• Vaccine
• Nutrition
• Country

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

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

Recurrent status epilepticus as the primary neurological manifestation of CADASIL: A case report
Publication date: 2015 Source:Epilepsy & Behavior Case Reports, Volume 3 Author(s): Naim Haddad , Catherine Ikard , Kim Hiatt , Vignesh Shanmugam , James Schmidley Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) often presents with a history of migraine with aura and eventual manifestations of dementia with unrelenting, repeated cerebral vascular insults. Only 6–10% of patients with CADASIL have been reported to develop seizures, and status epilepticus (SE) is exceedingly rare. Here, we describe a patient who presented with recurrent SE, with eventual biopsy ...
Source: Epilepsy and Behavior Case Reports - April 2, 2015 Category: Neurology Source Type: research

Neurologic attack and dynamic perfusion abnormality in neuronal intranuclear inclusion disease
Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in cells in the central, peripheral, and autonomic nervous system and visceral organs. Although clinical diagnosis was difficult until recently, an increasing number of adult cases of leukoencephalopathy have been diagnosed antemortem with NIID based on the characteristic hyperintensity in the corticomedullary junction on diffusion-weighted imaging (DWI) and confirmatory skin biopsy.1 While adult-onset NIID is characterized by slowly progressive dementia, it may also present with acute...
Source: Neurology Clinical Practice - December 11, 2017 Category: Neurology Authors: Fujita, K., Osaki, Y., Miyamoto, R., Shimatani, Y., Abe, T., Sumikura, H., Murayama, S., Izumi, Y., Kaji, R. Tags: MRI, SPECT, DWI, All Cognitive Disorders/Dementia Case Source Type: research