GJB1 Mutation-A Disease Spectrum: Report of Case Series

Discussion:GJB1 mutations form a clinical spectrum, including most patients with peripheral nerve involvement, those with both peripheral neuropathy and CNS involvement, and patients with CNS involvement only.
Source: Frontiers in Neurology - Category: Neurology Source Type: research

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The objectives of this paper are to review current guidelines for the pharmacological management of DPN and to discuss research rel evant to the further development of pharmacological recommendations for the treatment of diabetic neuropathy.SummaryDiabetic neuropathy is a highly prevalent, disabling condition, the management of which is associated with significant costs. Evidence supports the use of specific anticonvulsants and antidepressants for pain management in patients with diabetic peripheral neuropathy. All current guidelines advise a personalised approach with a low ‐dose start that is tailored to the maximum re...
Source: Journal of Pharmacy and Pharmacology - Category: Drugs & Pharmacology Authors: Tags: Review Source Type: research
Source: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy - Category: Endocrinology Tags: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy Source Type: research
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Source: Aphasiology - Category: Speech-Language Pathology Authors: Source Type: research
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Source: Aphasiology - Category: Speech-Language Pathology Authors: Source Type: research
Notch signaling is a highly conserved intercellular pathway with tightly regulated and pleiotropic roles in normal tissue development and homeostasis. Dysregulated Notch signaling has also been implicated in human disease, including multiple forms of cancer, and represents an emerging therapeutic target. Successful development of such therapeutics requires a detailed understanding of potential on-target toxicities. Here, we identify autosomal dominant mutations of the canonical Notch ligand Jagged1 (or JAG1) as a cause of peripheral nerve disease in 2 unrelated families with the hereditary axonal neuropathy Charcot-Marie-T...
Source: Journal of Clinical Investigation - Category: Biomedical Science Authors: Source Type: research
Dementia with Lewy bodies (DLB) is the second most common form of dementia in the elderly, and various clinical symptoms, including olfactory dysfunction, dysautonomia, depression, and rapid eye movement sleep behavior disorders (RBD), occur in patients with the prodromal state of DLB. We herein describe a case of a 72-years-old right-handed woman who exhibited primary progressive aphasia (PPA) as a prodromal state of DLB and took cholinesterase inhibitors (donepezil). At 4.5 years after aphasia onset, she exhibited all the core clinical features of DLB, including visual hallucinations, fluctuating cognition, RBD, and Park...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Source: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy - Category: Endocrinology Tags: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy Source Type: research
Discussion Myasthenia gravis (MG) is a problem of the neuromuscular junction which causes muscle weakness. It can occur in all ages and have a range of symptoms from mild localized disease to mortality-threatening respiratory failure. MG occurs in 1.7-30 cases/million, with a prevalence of 77.7 cases/million. Pediatric patients comprise 10-15% of all patients with MG. In various Asian populations, the juvenile MG can be up to 50% of all of the MG cases. Fluctuations in muscle weakness is a hallmark of the disease. As a reminder, “[i]n normal synaptic transmission in the neuromuscular junction, the axon is depolarize...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
Stroke mimic (SM) is a set of conditions with clinical presentation similar to that of an acute ischemic stroke (AIS), albeit not caused by an ischemic event [1]. From 1% to 41% of patients presenting stroke-like symptoms at admission to the Emergency Department are actually SM [2]. The most common SM etiologies are seizure (38%), migraine with aura (37%), and conversion disorder (21%) [3]. Other conditions of SM are metabolic, infectious, neurodegenerative disorder, peripheral neuropathy and syncope [3].
Source: Seizure: European Journal of Epilepsy - Category: Neurology Authors: Source Type: research
Conclusions:This case broadens the spectrum of neurologic disease associated with inflammatory bowel disease and TNF-alpha inhibitors. Encephalitis responsive to steroids should be considered in patients with inflammatory bowel disease exposed, even remotely, to anti-TNF-alpha biologics.Disclosure: Dr. Lin has nothing to disclose. Dr. Venna has nothing to disclose.
Source: Neurology - Category: Neurology Authors: Tags: CNS Inflammatory Diseases and Differential Diagnosis I Source Type: research
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