Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Multifocal motor neuropathy (MMN) is an acquired immune-mediated neuropathy characterized by chronic or stepwise progressive asymmetrical limb weakness without sensory deficits. The upper extremities are more often affected than the lower extremities with distal paresis dominating over proximal paresis. Important diagnostic features are persistent multifocal partial conduction blocks (CBs) and the presence of high-titer anti-GM1 serum antibodies. Motor neuron disease, other chronic dysimmune neuropathies, such as chronic inflammatory demyelinating polyneuropathy and the Lewis-Sumner syndrome (MADSAM neuropathy), are important differential diagnoses. While corticosteroids and plasma exchange are largely ineffective, high-dose intravenous immunoglobulins are regarded as first-line treatment. In spite of significant success in elucidating the underlying disease mechanisms in MMN during the past few years, important pathophysiological issues and the optimum long-term therapy remain to be clarified. The present review summarizes the clinical picture and current pathophysiological concepts of MMN with a special focus on the molecular and electrophysiological basis of CBs and highlights established therapies as well as possible novel treatment options.
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PMID:Multifocal motor neuropathy: update on clinical characteristics, pathophysiological concepts and therapeutic options. 2015 Jul 37

Tangier disease (TD) (OMIM#205400) is a rare autosomal recessive disorder resulting from mutations in the ABCA1 gene, leading to decreased levels of plasma high-density lipoproteins (HDL). Peripheral neuropathy is a common finding in this disease, and may present as relapsing/remitting mono/polyneuropathies or as syringomyelia-like neuropathy. We retrospectively analyzed four patients, and report here their clinical, biological, electrophysiological, imaging, and genetic findings. Three patients had a typical pseudosyringomyelic neuropathy including facial diplegia, but asymmetrical onset was observed in one patient who had first been misdiagnosed with Lewis-Sumner syndrome. Electrophysiological pattern was heterogeneous, showing both signs of demyelination and axonal degeneration. Truncating mutations of the ABCA1 gene, including two previously undescribed mutations, were constantly found. Atypical symptom onset and demyelinating features on electrophysiological examination can be misleading in case of pseudosyringomyelic neuropathy. These reports illustrate two different neurological phenotypes in TD, namely the pseudosyringomyelic type and the Lewis-Sumner-like type, and advocate for a systematic assessment of lipid profile including HDL cholesterol in demyelinating neuropathies.
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PMID:Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease. 2217 83

Chronic inflammatory demyelinating polyradiculoneuropathies are a group of autoimmune neuropathies with a chronic course. Lewis-Sumner syndrome is a variant of this disease, characterized by an asymmetrical distal and mostly motor involvement, predominating at upper limb. We report the case of a patient who developed almost currently rheumatoid arthritis and Lewis-Sumner syndrome, which raised the problem of therapeutic intensification for his rheumatism when methotrexate proved to be ineffective. Finally, rituximab had been introduced by common consent with neurologists, and the patient noticed an improvement fifteen days after the first infusion. Even if it is striking that both dysimmune diseases had declared within a few months, the association between chronic inflammatory demyelinating polyradiculoneuropathies and rheumatoid arthritis is exceptional, since the only cases reported in the literature are secondary to TNF-alpha inhibitors. Given the potential demyelinating impact of some biologics, rituximab and perhaps abatacept seem to be the best therapeutic options when DMARDs had proven insufficient to control the rheumatism activity.
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PMID:Lewis-Sumner syndrome in a patient with rheumatoid arthritis: Link between rheumatoid arthritis and demyelinating polyradiculoneuropathies. 2836 22

Lewis-Sumner syndrome (LSS) is a rare disease characterized by asymmetrical and multifocal mononeuropathy commonly located in the upper limbs. Some rare cases affecting cranial nerve have been described, but LSS is unknown to affect especially laryngeal nerves. This paper presents the first case of unilateral vocal fold paresis caused by an LSS in a 59-year-old man complaining of dysphonia, breathy voice, and vocal fatigue. Epidemiology, clinical features, diagnosis, and treatment will be described.
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PMID:Lewis-Sumner Syndrome Manifesting as Unilateral Vocal Fold Paresis and Laryngeal Fasciculations. 2878 Oct 97