Amyloid neuropathy mimicking chronic inflammatory demyelinating polyneuropathy

Mathis, Stéphane; Magy, Laurent; Diallo, L. Rosier; Boukhris, S.; Vallat, Jean‐Michel

doi:10.1002/mus.22229

Cited by 79 publications

(57 citation statements)

References 25 publications

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“…A high proportion of our non‐Portuguese patients met the electrophysiological criteria for demyelination in keeping with recent observations of histological demyelination in peripheral nerves 38. Misleading CIDP presentations have been occasionally reported in TTR‐FAP14, 38; we found 20% of our cohort of French ancestry fulfilling CIDP criteria.…”

Section: Discussionsupporting

confidence: 89%

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Genotype–phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France

Mariani¹,

Lozeron

Théaudin

et al. 2015

Annals of Neurology

143

102

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ObjectiveTo compare the natural history of familial transthyretin amyloid polyneuropathies (FAP) due to the Val30Met, Ser77Tyr, and Ile107Val mutations in France with the classical Portuguese Val30Met FAP.MethodsWe compared 84 French patients with a control group of 110 Portuguese patients carrying the Val30Met mutation also living in France, all referred to and followed at the French National FAP Reference Center from 1988 to 2010. Clinical examination, functional and walking disability scores, nerve conduction studies, and muscle biopsies are reported. We also conducted a comprehensive literature review to further determine the range of phenotypic expression.ResultsBy comparison with Portuguese Val30Met FAP, French Ile107Val, Ser77Tyr, and LateVal30Met FAP showed more rapid and severe disease progression; onset of gait disorders was 3 times more rapid (p < 0.0001) and the rate of modified Norris test decline was up to 40 times faster in Ile107Val patients (p < 0.0001). Median survival was much shorter in Ile107Val and in Val30Met mutation with late onset (>50 years; LateMet30) FAP (p = 0.0005). Other distinctive features relative to the Portuguese patients included atypical clinical presentations, demyelination on nerve conduction studies (p = 0.0005), and difficult identification of amyloid deposits in nerve and muscle biopsies.InterpretationIle107Val and LateMet30 mutations are associated with the most debilitating and severe FAP ever described, with rapid onset of tetraparesis and shorter median survival. It could be explained by frequent large‐fiber involvement and associated demyelination and more severe axonal loss. These findings have major implications for genetic counseling and patient management as new therapeutic options are being assessed in clinical trials (TTR gene silencing). Ann Neurol 2015;78:901–916

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Section: Discussionsupporting

confidence: 89%

“…Misleading CIDP presentations have been occasionally reported in TTR‐FAP14, 38; we found 20% of our cohort of French ancestry fulfilling CIDP criteria. This is to our knowledge the first study able to estimate the prevalence of pseudo‐CIDP presentation in a large cohort of non‐Portuguese FAP patients.…”

Section: Discussionmentioning

confidence: 49%

Genotype–phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France

Mariani¹,

Lozeron

Théaudin

et al. 2015

Annals of Neurology

143

102

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“…Set apart the presentation of length-dependent small fiber polyneuropathy mimicking diabetic polyneuropathy and all fiber polyneuropathy [6], many new clinical phenotypes have been recently identified, usually with a misleading and delayed diagnosis. An ataxic phenotype was reported in up to 26% of TTR-FAP in France [17] and in Germany [18], sometimes misdiagnosed as a Chronic Inflammatory Demyelinating Polyneuropathy [19]. Upper Limb Onset Neuropathy has been reported [20] in 22 % of French TTR-FAP patients of nonPortuguese origin [17].…”

Section: Ttr-fapmentioning

confidence: 97%

Current and future treatment of amyloid neuropathies

Adams¹,

Cauquil²,

Théaudin³

et al. 2014

Expert Review of Neurotherapeutics

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Amyloid neuropathies of acquired or genetic origin are disabling and life-threatening, until recently there were few treatment options available. Poor prognosis is related to progressive neuropathy and associated, although often underdiagnosed, cardiac involvement in specific transthyretin (TTR) gene mutations. Recent progress has modified prognosis and management of amyloid neuropathies. In TTR-familial amyloidosis with polyneuropathy, major changes have occurred over the last 30 years: better knowledge concerning genetics, phenotypes and epidemiology, and the advent of possible treatments. Liver transplantation, first performed in 1990, stopped disease progression, thus doubling survival in early onset V30M patients. More recently tetramer stabilizers (Tafamidis and Diflunisal) showed a significant reduction of progression of neuropathic scores; Tafamidis is now recommended in Stage I patients. Two multicentric clinical trials are now ongoing to evaluate TTR gene silencing by antisense Oligonucleotides (ASO) or siRNA. In the near future we should have new therapeutical options for patients with amyloid neuropathy.

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“…Besondere Schwierigkeiten ergeben sich bei der Late-onset-FAP durch die unspezifischere Symptomatik, das fortgeschrittene Erkrankungsalter und die oft nicht erkennbare Erblichkeit mit der Folge, dass viele TTR-assoziierte Amyloidosen in dieser Altersgruppe undiagnostiziert bleiben [28]. Weiterhin können das Bestehen anderer Polyneuropathieursachen (Diabetes mellitus, Gammopathie), Liquoreiweißerhö-hungen [7,14,17] oder demyelinisierende Komponenten in der Elektrophysiologie [29,30] die korrekte Diagnose erschweren. Außerhalb bereits identifizierter Familien beträgt die durchschnittliche Verzögerung von Symptombeginn bis zur korrekten Diagnose median etwa 3 Jahre [12] und kann in Einzelfällen bis zu 8 Jahre dauern [14].…”

Section: Diagnostikunclassified

“…Außerhalb bereits identifizierter Familien beträgt die durchschnittliche Verzögerung von Symptombeginn bis zur korrekten Diagnose median etwa 3 Jahre [12] und kann in Einzelfällen bis zu 8 Jahre dauern [14]. Häufige Fehldiagnosen sind die chronisch-inflammatorisch demyelinisierende Polyneuropathie oder eine Leichtketten(AL)-Amyloidose [29,30]. Die Beachtung von autonomen Symptomen, Organbeteiligungen (Herz, Darm) und eines vorangegangenen beidseitigen Karpaltunnelsyndroms (evt.…”

Section: Diagnostikunclassified

Hereditary transthyretin amyloidosis

Hund

2014

Nervenarzt

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Hereditary amyloidosis is an autosomal dominant fatal multisystem disease caused by extracellular deposition of misfolded proteins and, therefore represents a hereditary protein folding or deposition disease that leads to progressive organ damage and eventually death. In most instances mutations within the transthyretin gene are the underlying cause. The main manifestation is a rapidly progressing axonal sensorimotor and autonomic polyneuropathy (familial amyloid polyneuropathy, FAP). Cardiac involvement is frequent in FAP and additional manifestations include the gastrointestinal tract and the eyes. A second manifestation type is cardiomyopathy with little or no polyneuropathy (familial amyloid cardiomyopathy, FAC). For therapy, orthotopic liver transplantation has been established for 25 years. Recently, the oral agent tafamidis, a transthyretin stabilizer, was licensed for treatment of stage 1 polyneuropathy. Additional treatment options are currently being studied.

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Amyloid neuropathy mimicking chronic inflammatory demyelinating polyneuropathy

Abstract: This report emphasizes the need to look for an alternative diagnosis in CIDP patients who do not respond to treatment and to look carefully for symptoms or signs of autonomic involvement in such patients.

Cited by 79 publications

References 25 publications

Genotype–phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France

Genotype–phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France

Current and future treatment of amyloid neuropathies

Hereditary transthyretin amyloidosis

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