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Specialty: Neurology
Condition: Peripheral Neuropathy

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Total 64 results found since Jan 2013.

X-linked Charcot –Marie–Tooth Disease Presenting with Stuttering Stroke-like Symptoms
Neuropediatrics DOI: 10.1055/s-0039-1692982X-linked Charcot–Marie–Tooth disease (CMTX1) is the second most common form of Charcot–Marie–Tooth disease (CMT). It is caused by a mutation in the gap junction β 1 (GJB1) gene, which encodes for connexin-32. In addition to the peripheral neuropathy and foot deformities observed in classic CMT, central nervous system symptoms and magnetic resonance imaging (MRI) signal abnormalities in the brain have been reported in patients with CMTX1. Here we describe two cases of adolescent males who presented with stuttering neurologic deficits that were initially suggestive of acute...
Source: Neuropediatrics - June 19, 2019 Category: Neurology Authors: Hardy, Duriel I. Licht, Daniel J. Vossough, Arastoo Kirschen, Matthew P. Tags: Short Communication 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

A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms
Conclusion A novel GJB1 variant of c.-170T>G in non-coding region was found in this big Chinese CMTX1 pedigree. This is the first report of variant in non-coding DNA sequence associated with transient CNS symptoms. Thyroid malfunction may contribute to the CNS symptoms in this case. Ethics Statement This study has been reviewed and approved by the Ethics Committee of the China-Japan Union Hospital of Jilin University. Each member of the family provided written informed consent to the participation in the study, the genetic test, and authorized to publish the study including the photos in accordance with the Decl...
Source: Frontiers in Neurology - April 23, 2019 Category: Neurology Source Type: research

Uncontrolled inflammation of the nervous system: Inherited CD59 deficiency
Eculizumab may be effective in reversing neurologic symptoms of inherited CD59 deficiency.
Source: Neurology Clinical Practice - October 15, 2018 Category: Neurology Authors: Yuksel, D., Oguz, K. K., Azapagası, E., Kesici, S., Cavdarli, B., Konuskan, B., Topaloglu, H. Tags: Childhood stroke, Peripheral neuropathy, All Spinal Cord, All Demyelinating disease (CNS), All Genetics Case Source Type: research

New clinical characteristics and risk factors of hand knob infarction
This study aimed to identify the clinical characteristics and risk factors of HKI. Nine HKI patients admitted between January 2013 and March 2016 were confirmed by magnetic resonance imaging. Their medical records were collected and analyzed. The modified Rankin Scale was used to assess clinical outcomes. Routine laboratory tests, electrocardiogram, echocardiography, cranial magnetic resonance imaging, magnetic resonance angiography, computed tomography angiography, and Doppler ultrasonography examinations were performed. Seven patients had uniform involvement of all digits. One patient with radial weakness had a lesion in...
Source: Neurological Sciences - February 17, 2018 Category: Neurology Source Type: research

Multiple Cerebral Infarctions Due to Patent Foramen Ovale in a Patient with Eosinophilic Granulomatosis with Polyangiitis
A 51-year-old man was diagnosed with eosinophilic granulomatosis with polyangiitis 6 years ago due to asthma, sinusitis, hypereosinophilia, and peripheral neuropathy based on the diagnostic criteria of American College of Rheumatology, and corticosteroid therapy achieved a remission. One year ago, he was hospitalized due to deep venous thrombosis (DVT) and pulmonary embolism, and rivaroxaban was administrated. He was admitted to our hospital for acute onset of diplopia and right hemiparesis. Peripheral blood examinations disclosed leukocytosis with hypereosinophilia.
Source: Journal of Stroke and Cerebrovascular Diseases - January 18, 2018 Category: Neurology Authors: Kota Maekawa, Masunari Shibata, Masaru Seguchi, Kazuto Kobayashi, Yutaka Naito, Fumitaka Miya Tags: Case Studies Source Type: research

Inclusion body myositis and human immunodeficiency virus type 1: A new case report and literature review
Neurological involvement in human immunodeficiency virus (HIV) type 1 infection are frequent and include: peripheral neuropathy, central nervous system infections, neoplasms, stroke and myopathies [1]. Prevalence of muscle disease in HIV infection is low, found in less than 1% of patients with AIDS, and myopathy may occur at any stage of immunosuppression. Many neuromuscular disorders are described in HIV infected patients: polymyositis, myopathy induced by nucleoside reverse transcriptase inhibitors (NRTI) such as zidovudine, muscle opportunistic infections of skeletal muscle tissue, such as toxoplasmosis, HIV associated ...
Source: Neuromuscular Disorders - January 10, 2018 Category: Neurology Authors: Priscille Couture, Edoardo Malfatti, Genevi ève Morau, Alexis Mathian, Fleur Cohen-Aubart, Hubert Nielly, Zahir Amoura, Patrick Cherin Tags: Case report Source Type: research

A case with CMTX1 disease showing transient ischemic-attack-like episodes.
We describe a 15-year-old male patient with CMTX1 who had stroke-like findings along with foot deformities and peripheral neuropathy. Strokes and stroke-like attacks are rarely seen in children and adolescents. Herein, neurological signs, MRI findings and genetic results of a CMTX1 case are presented and discussed. PMID: 29153916 [PubMed - as supplied by publisher]
Source: Neurologia i Neurochirurgia Polska - November 9, 2017 Category: Neurology Authors: Aktan Z, Akcakaya NH, Tekturk P, Deniz E, Koyuncu B, Yapici Z Tags: Neurol Neurochir Pol Source Type: research

Neurologic complications of sickle cell disease in Africa: A systematic review and meta-analysis
Conclusions: The burden of neurologic complications of SCD is important in Africa and most likely underestimated. A better evaluation of this burden requires larger prospective studies using standard up-to-date screening methods. Accessibility to diagnostic tools such as neuroimaging, transcranial Doppler, EEG, and neuropsychological evaluation, as well as to preventive and therapeutic interventions and trained health care providers, should be improved in routine clinical practice.
Source: Neurology - October 2, 2017 Category: Neurology Authors: Noubiap, J. J., Mengnjo, M. K., Nicastro, N., Kamtchum-Tatuene, J. Tags: VIEWS & amp;amp; REVIEWS Source Type: research

Cryptogenic stroke in a young patient with heart disease and kidney failure.
CONCLUSIONS: Fabry's disease must be suspected in young males with heart disease, stroke or peripheral neuropathy, skin lesions, kidney failure and a history of cases in the family. Hormone replacement therapy must be established at an early stage, as it can improve the prognosis. PMID: 28497441 [PubMed - in process]
Source: Revista de Neurologia - May 13, 2017 Category: Neurology Authors: Oyanguren B, Segoviano R, Alegria E, Besada E, Gonzalez-Salaices M, Eimil-Ortiz M, Lopez de Silanes C Tags: Rev Neurol Source Type: research

Teaching NeuroImages: Acute infarction of the left medial lemniscus masquerading as a peripheral neuropathy
A 58-year-old woman with hypertension and bilateral carpal tunnel syndrome presented with acute paresthesias in her right hand and foot. She had decreased sensation to vibration and pinprick in a right-sided stocking-glove distribution. MRI of the pons confirmed an acute infarction of a paramedian branch of the basilar artery in the left medial lemniscus (figure). In the posterior column pathway, sensory projections from the face, arm, and leg are somatotopically arranged medially to laterally within the medial lemniscus.1,2 Although strokes classically present with numbness, both thalamic and medial lemniscal infarcts can...
Source: Neurology - April 24, 2017 Category: Neurology Authors: Aamodt, W. W., Siegler, J. E., Elman, L. Tags: MRI, DWI, All Cerebrovascular disease/Stroke, Central pain, Infarction RESIDENT AND FELLOW SECTION Source Type: research

Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia
Phosphomannomutase-2 deficiency-congenital disorder of glycosylation (PMM2-CDG), congenital disorder of glycosylation type-Ia or Jaeken syndrome (MIM #601785) is an autosomal recessive inherited condition of abnormal glycosylation of N-linked oligosaccharides [1]. Disease course is variable, ranging from infantile forms with multisystem involvement and a childhood-adult ataxia-intellectual disability type with neurologic stable form [1,2]. The phenotypic spectrum includes morphological abnormalities, ataxia, developmental delay, strabismus, retinopathy, seizures, stroke-like episodes, peripheral neuropathy, hypergonadotrop...
Source: Journal of the Neurological Sciences - April 23, 2017 Category: Neurology Authors: Malco Rossi, Alex Medina Escobar, Lucia Ameghino, Marcelo Merello Tags: Letter to the Editor Source Type: research

Diagnostic Challenges due to Atypical presentations of CMT in Charcot Marie Tooth Disease type 4C associated with SH3TC2 mutations (P5.124)
Conclusions:Our results suggest that certain mutations in the SH3TC2 gene can present with clinical features atypical of classic presentations of CMT. These atypical features have been described previously, and our results confirm the diagnostic challenge associated with CMT 4C.Study Supported by:This work was supported by intramural funding from the National Institute of Neurological Disorders and Stroke (NINDS), NIH (AM). The work was supported by a grant from the National Institute of Neurological Disorders and Stroke (MES) and Office of Rare Diseases (MES, U54NS065712), Muscular Dystrophy Association (MES), Charcot-Mar...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Jerath, N., Grunseich, C., Baloui, H., Nnamdi-Emeratom, C., Schindler, A., Chrast, R., Shy, M., Mankodi, A. Tags: Neuromuscular and Clinial Neurophysiology (EMG): Peripheral Neuropathy II Source Type: research

Rare Cases of Thrombotic and Embolic Stroke with Hypereosinophilia (P1.295)
Conclusions:Hypereosinophilia can cause both embolic and thrombotic strokes as evidenced by our patients. The etiology of embolic stroke may be due to the direct eosinophilic damage to the endocardium or by the release of eosinophilic basic proteins which initiate endomyocardial necrosis, making the heart a potential source of emboli. Causes of thrombogenicity are multifactorial including the release of tissue factor from specific granules, inactivation of thrombomodulin by binding to the major basic protein, endothelial damage or by elevation of fibrinogen levels. The individual presentations (thrombotic/embolic) will alt...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Finelli, D., Shoamanesh, A., Perera, K. Tags: Cerebrovascular Disease Case Reports I Source Type: research