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Late-onset Fabry disease due to a new (p.Pro380Leu) pathogenic variant of GLA Gene
AbstractFabry disease is a rare X-linked lysosomal storage disorder due to pathogenic variants of the galactosidase alpha (GLA) gene, leading to a deficiency of alpha-galactosidase A. The inadequate enzymatic activity leads to progressive glycosphingolipids accumulation within tissues and subsequent multi-systemic dysfunction, with predominant involvement of heart, kidney, and nervous system. Two subtypes are recognized: the classic type and the late-onset type. We here describe the clinical characteristics of a patient with late-onset Fabry disease carrying a not previously identified GLA gene variant. This 50-year-old ma...
Source: Metabolic Brain Disease - December 1, 2022 Category: Neurology 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

Clinicopathological features of neuronal intranuclear inclusion disease diagnosed by skin biopsy
ConclusionsThe results indicated that inclusions were more easily detected in sweat gland cells in skin biopsy. The early stage of NIID could only characterized by autonomic nerve function involvement. Combined autonomic nerve dysfunction might be another relatively common manifestation in NIID.
Source: Neurological Sciences - August 13, 2021 Category: Neurology Source Type: research

Stormorken Syndrome Caused by a Novel STIM1 Mutation: A Case Report
Conclusions: The novel variant c.1095G>C transition (NM_003156.3) was located in the SOAR, which expands the phenotypic spectrum of STIM1 variants in human disorders and may define the molecular basis of Stormorken syndrome.
Source: Frontiers in Neurology - August 2, 2021 Category: Neurology Source Type: research

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

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) – Still to be Considered in the Presence of Vascular Risk Factors
We report a 46-year-old male with a 9 and 3-month history of progressive unilateral lower limb weakness and dysarthria, respectively. He had a history of diabetes mellitus but no hypertension, hyperlipidemia, or smoking history. Both parents had a stroke at the age of 65 years. Neurological examination was significant for moderate dysarthria and reduced right upper limb dexterity. Magnetic resonance imaging (MRI) of the brain revealed extensive white matter disease, lacunar infarcts, and a few microhemorrhages. Electron microscopy of his skin biopsy showed electron-dense deposits of extracellular osmiophilic granular mater...
Source: Case Reports in Neurology - December 14, 2020 Category: Neurology Source Type: research

Ataxia Associated with CADASIL: a Pathology-Confirmed Case Report and Literature Review
AbstractCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is primarily characterized by migraine, stroke, mood disturbances, and cognitive decline. Ataxia has seldom been reported as a presenting symptom. Here, we review reports of CADASIL presenting as ataxia and compare these to the first pathologically confirmed case of CADASIL presenting with progressive ataxia. A 50-year-old woman presented with progressive truncal ataxia. Brain magnetic resonance imaging (MRI) revealed white matter hyperintensities in the bilateral anterior temporal lobes, external capsules, and peri...
Source: The Cerebellum - July 29, 2020 Category: Neurology Source Type: research

Disseminated cutaneous herpes zoster and multiple cerebral infarcts in an adult with diabetes mellitus
We present the case of a patient with a medical history of type 2 diabetes mellitus (DM) who experienced disseminated cutaneous VZV infection followed by multiple cerebral infarcts associated with VZV vasculopathy. Brain magnetic resonance imaging revealed multiple hyperintense lesions over the bilateral deep white matter and basal ganglia. A skin biopsy revealed small-vessel leukocytoclastic vasculitis with neutrophilic, lymphocytic, and eosinophilic infiltration. This case report describes the rare finding of cutaneous leukocytoclastic vasculitis in VZV infection and highlights that VZV infection is an uncommon but criti...
Source: Journal of NeuroVirology - January 14, 2020 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

Nuclear abnormalities in vascular myocytes in cerebral autosomal ‐dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
Cerebral autosomal ‐dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a stroke and dementia syndrome with degeneration and loss of vascular smooth muscle cells (VSMCs). The disease is due to mutations inNOTCH3 playing an important role in VSMC differentiation, proliferation and apoptosis. Searching for a possible cause of VSMC dysfunction in CADASIL, we investigated morphology and proliferative activity the affected myocytes. In material from autopsy brains and skin ‐muscle biopsies of patients with CADASIL diagnosis, assessment of VSMCs in arterial vessels at the level of light and e...
Source: Neuropathology - November 6, 2018 Category: Neurology Authors: Dorota Dziewulska, Ewelina Nycz, Cecylia Rajczewska ‐Oleszkiewicz, Jacek Bojakowski, Dorota Sulejczak Tags: Original Article 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

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 25, 2017 Category: Neurology 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

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