Chronic idiopathic axonal polyneuropathy revisited

Rosenberg, N R; Vermeulen, M.

doi:10.1007/s00415-004-0499-8

Cited by 17 publications

(10 citation statements)

References 15 publications

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“…In up to 50% of idiopathic axonal neuropathies an underlying diagnosis may be identified, including hereditary neuropathy 5. Given the late age at onset of CMT1B, a possible positive family history may be overlooked.…”

Section: Discussionmentioning

confidence: 99%

Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy

et al. 2008

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In up to 50% of chronic idiopathic axonal neuropathies, an underlying diagnosis may be identified, including hereditary neuropathy. Charcot-Marie-Tooth disease (CMT) is clinically and genetically heterogeneous. Several mutations in the myelin protein zero (MPZ) gene have been associated with different CMT phenotypes, including classical demyelinating CMT1B and the axonal form of the disease. Primary amyloidosis, a rare disease where the amyloid is formed by the N-terminal portion of a monoclonal immunoglobulin light chain, may be complicated by polyneuropathy. We report a patient who was incorrectly diagnosed with amyloid neuropathy, but was found to have axonal CMT1B only after sural nerve biopsy ruled out an acquired amyloid neuropathy.

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Section: Discussionmentioning

confidence: 99%

Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy

et al. 2008

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“…1 Despite an extensive workup, most of these polyneuropathies remain idiopathic or cryptogenic. 2,3 Consistent with axonal loss, there is no sign of demyelination on electrophysiologic examination. 4 Nevertheless, 5-12% of patients with chronic inflammatory demyelinating polyneuropathy (CIDP) complain only of sensory symptoms despite the presence of electrophysiologic evidence for demyelination of motor nerves.…”

mentioning

confidence: 96%

“…Patients with chronic sensory polyneuropathy usually exhibit clinical, electrophysiologic, and pathologic features suggestive of primary axonal degeneration . Despite an extensive workup, most of these polyneuropathies remain idiopathic or cryptogenic . Consistent with axonal loss, there is no sign of demyelination on electrophysiologic examination .…”

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confidence: 99%

Sensory chronic inflammatory demyelinating polyneuropathy: An under-recognized entity?

et al. 2013

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“…However, all patients underwent repeated fasting glucose testing during the years before and many had normal glycosylated Hb levels. In patients older than 55 years having an axonal polyneuropathy of undetermined origin, chronic idiopathic axonal polyneuropathy (CIAP) is commonly diagnosed, although several patients ultimately may have a hereditary neuropathy [16,17]. Although the number of cases having an idiopathic polyneuropathy in our study seems large and several patients were younger than 55 years, CIAP might be the actual diagnosis in these 12 patients.…”

Section: Discussionmentioning

confidence: 69%

Neuromuscular manifestations in hereditary haemochromatosis

et al. 2010

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Involvement of peripheral nerves and skeletal muscles has been reported in the course of hereditary haemochromatosis (HH) but a systematic study is lacking. However, patients with HH report symptoms suggesting a possible polyneuropathy or myopathy. In this study patients with DNA proven HH were recruited from a large general teaching hospital. First, all patients were clinically examined using a structured interview and neurological exam. After reviewing these data an expert panel reached consensus about the presence of a possible neuropathy or myopathy and made recommendations for ancillary investigations (nerve conduction studies, electromyography, thermal threshold tests, laboratory tests). After a second meeting consensus was reached about the final diagnosis. Patients who had a neuropathy or myopathy of which the origin was still unclear were referred to an independent neurologist for further evaluation. Ultimately, of 46 patients included, 25 had no myopathy or neuropathy, 5 an axonal sensory motor polyneuropathy of which the cause was found (diabetes in 2, combination of diabetes and chemotherapy in 1, Charcot Marie Tooth type 2 in 1, Morbus Sjögren in 1), 9 an idiopathic axonal sensory motor polyneuropathy, 3 an idiopathic small fiber polyneuropathy and 4 a carpal tunnel syndrome. There were no cases of proven myopathy. We conclude that an idiopathic polyneuropathy was diagnosed in a relative large number of patients with HH (26%), but the causal relationship needs to be confirmed in larger (case-control) series.

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Chronic idiopathic axonal polyneuropathy revisited

Cited by 17 publications

References 15 publications

Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy

Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy

Sensory chronic inflammatory demyelinating polyneuropathy: An under-recognized entity?

Neuromuscular manifestations in hereditary haemochromatosis

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