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)

Cryoglobulinemia represents an emerging cause of peripheral neuropathy, especially in Southern Europe, in view of its relationship with hepatitis C virus infection. In a series of 100 consecutive referral patients with uncharacterized peripheral neuropathies, we systematically investigated cryoglobulinemia to assess its diagnostic yield. The most frequent diagnosis was hereditary neuropathy (33%), 29% were acquired neuropathies of different types, and no cause could be identified in 27%. Cryoglobulinemic neuropathy was diagnosed in 11 patients (7 women and 4 men), aged 54-77 (mean = 63.5 years), most presenting with sensory polyneuropathy, often asymmetrical. Cryoglobulin was also detected in 2 additional patients in whom a final diagnosis of non-Hodgkin lymphoma was made. Purpura was absent in 4 patients (and in 2 with lymphoma), or restricted to discrete manifestations in the remaining patients, which did not provide a clue to the diagnosis. Thus, search for cryoglobulin proves useful in a substantial number of undiagnosed peripheral neuropathies (11% to 13% in our series), even in the absence of typical skin lesions, and it is recommended as a first-line investigation in patients with unexplained neuropathy presenting in middle to older age.
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PMID:Cryoglobulinemia is a frequent cause of peripheral neuropathy in undiagnosed referral patients. 1193 53

Charcot-Marie-Tooth disease (CMT), the most frequent form of inherited neuropathy, is a genetically heterogeneous syndrome of the peripheral nervous system with a rather homologous clinical phenotype (slowly progressive distal weakness and muscle atrophy, skeletal deformities, and areflexia in each limb). CMT1 is the autosomal-dominant demyelinating form, and CMT1A (mostly PMP22 duplication) is the most frequent subtype, followed by CMTX1, HNPP (hereditary neuropathy with liability to pressure palsies), CMT1B, or CMT2. As CMT is characterized by slowly progressive motor and sensory disturbances in each limb, it could be misdiagnosed as chronic inflammatory demyelinating polyneuropathy (CIDP) occasionally. Some points can distinguish demyelinating CMT from CIDP. CMT1 patients do not show the conduction block that is frequent in CIDP. In addition, ultrasonographic findings are useful because CMT1 suggests diffuse enlargement of peripheral nerves, whereas CIDP is characterized by asymmetrical or focal enlargement of peripheral nerves. Some CMT1 cases show favorable responses to immunomodulating therapeutics such as corticosteroids, IVIg, and plasma exchange. Such CIDP-like CMT1 (especially CMT1B or CMT2A) shows moderate to high levels of cerebrospinal fluid protein and infiltrated inflammatory macrophages.
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PMID:[Phenotypes of Charcot-Marie-Tooth Syndrome and Differential Diagnosis Focused in Inflammatory Neuropathies]. 2676 97

The hereditary neuropathy with liability to pressure palsies (HNPP) is an autossomal dominant disorder manifesting recurrent mononeuropathies. Objective Evaluate its clinical and nerve conduction studies (NCS) characteristics, searching for diagnostic particularities. Method We reviewed the neurological manifestations of 39 and the NCS of 33 patients. Results Family history was absent in 16/39 (41%). The onset complaints were weakness in 24, pain in 6, sensory deficit in 5 and paresthesias in 4. Pain was seen in 3 other patients. The following neuropathy patterns were found: multiple mononeuropathy (26), mononeuropathy (7), chronic sensorimotor polyneuropathy (4), chronic sensory polyneuropathy (1) and unilateral brachial plexopathy (1). NCS showed a sensorimotor neuropathy with focal conduction slowing in 31, two had mononeuropathy and another brachial plexopathy. Conclusion HNPP presentation is variable and may include pain. The most frequent pattern is of an asymmetrical sensory and motor neuropathy with focal slowing at specific topographies on NCS.
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PMID:Clinical and neurophysiological features of the hereditary neuropathy with liability to pressure palsy due to the 17p11.2 deletion. 2698 83