Electrophysiological features of late-onset transthyretin Met30 familial amyloid polyneuropathy unrelated to endemic foci

Koike, Haruki; Kawagashira, Yuichi; Iijima, Masahiro; Yamamoto, Masahiko; Hattori, Naoki; Tanaka, Fumiaki; Hirayama, Masaaki; Ando, Yumiko; Ikeda, Shu‐ichi; Sobue, Gen

doi:10.1007/s00415-008-0962-z

Cited by 59 publications

(68 citation statements)

References 41 publications

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“…Detailed descriptions of the severity of these deficits are only available in individual case reports. Despite large studies of the main clinical features of LateMet30 FAP,11, 35 no controlled studies have focused on the clinical features of FAP neuropathies in Val107 and Tyr77 carriers. Almost all our patients exhibited autonomic dysfunction, as previously reported.…”

Section: Discussionmentioning

confidence: 99%

“…Early onset Met30 autopsy studies showed more severe amyloid deposition in sympathetic than dorsal root ganglia, with the opposite pattern in LateMet30. Another study35 compared sural nerves biopsies from early onset to late onset Met30 patients and found predominantly small‐fiber loss for the first. Scarce amyloid deposition casts doubt on the pathogenicity of these deposits.…”

Section: Discussionmentioning

confidence: 99%

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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

151

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: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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

Mariani¹,

Lozeron

Théaudin

et al. 2015

Annals of Neurology

151

102

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“…The demyelinating feature suggested by NCS has been reported as the most common pitfall in diagnosing sporadic cases of FAP (10), and in some late-onset FAP patients with ATTR V30M, the slowing of conduction velocity and prolongation of distal latency were reported to be conspicuous (11). In fact, the electrophysiological findings of the right ulnar nerve observed in our patient also hampered the correct diagnosis in our patient.…”

Section: Discussionmentioning

confidence: 56%

A Case of Atypical Amyloid Polyneuropathy with Predominant Upper-limb Involvement with the Diagnosis Unexpectedly Found at Lung Operation

et al. 2010

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We present a patient of familial amyloid polyneuropathy (FAP) with predominant upper-limb involvement, the pattern of which resembled a mononeuropathy multiplex pattern. Sural nerve biopsy failed to diagnose the disorder, but lung partial resection performed later for other diagnostic purposes suggested FAP. A rare mutation in the transthyretin gene (S50R) was subsequently confirmed. Diagnostic challenges of FAP with atypical clinical presentations, including difficulties in pathological diagnosis, are discussed with a review of the literature.

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“…In FAP with ATTRVal30Met it has been shown that the clinical picture and the histopathological and electrophysiological findings of peripheral nerve lesions are considerably different between patients with early-onset type and those with late-onset type [10,[15][16][17]: the latter group of patients frequently has serious cardiac involvement [37], and upper limb neuropathy may develop at an earlier stage of the disease than previously recognized [38,39]. Histopathology of dorsal root ganglia shows a more selective loss of small neurons in early-onset patients [40], while loss of neurons of all sizes is seen in late-onset patients [15].…”

Section: Difference In Pathophysiology Between Endemic-versus Non-endmentioning

confidence: 99%

“…An anticipation phenomenon is also observed only in endemic patients [11][12][13][14]. It was recently shown that histopathological and electrophysiological Kodaira et al 4 of 26 findings of peripheral nerve lesions differed between the two groups [15][16][17]. Although genetic, gender and environmental factors, and aging are surmised to be the causes of these differences, the details remain unclear.…”

Section: Introductionmentioning

confidence: 99%

Electrophysiological features of familial amyloid polyneuropathy in endemic area

Kodaira

Morita

Shimojima

et al. 2011

Amyloid

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The process of deterioration of peripheral nerve function in familial amyloid polyneuropathy (FAP) with amyloidogenic transthyretin (ATTR) Val30Met has not been systematically evaluated hitherto. We performed nerve conduction studies in 69 patients with FAP with ATTR Val30Met from one of the endemic areas in Japan. Sensory conduction velocity (SCV), motor conduction velocity (MCV), the size of the compound muscle action potential (CMAP), and distal latency (DL) were measured in the ulnar and tibial nerves. SCV was evaluated using the orthodromic method with needle recording electrodes. These electrophysiological parameters were compared with clinical stage of FAP and duration of neuropathy. When subjects noted minimal neuropathic symptoms only in the feet, motor and sensory nerve function in both the hands and feet had already been disturbed. Sensory nerve action potential on the foot disappeared more rapidly than CMAP. CMAP on foot muscle rapidly decreased during the initial 2 years and completely disappeared within 10 years. The duration of illness and deterioration parameters (CMAP of the abductor minimi muscle, MCV and SCV of the ulnar nerve, and DL of both ulnar and tibial nerves) were linearly correlated. CMAP was the most sensitive and reliable parameter to evaluate motor nerve degeneration in FAP.

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Electrophysiological features of late-onset transthyretin Met30 familial amyloid polyneuropathy unrelated to endemic foci

Abstract: Electrophysiological differences between late- and early-onset cases were present, probably reflecting the different underlying pathogenic mechanisms of neuropathy. The demyelinating feature does not exclude the possibility of this disease.

Cited by 59 publications

References 41 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

A Case of Atypical Amyloid Polyneuropathy with Predominant Upper-limb Involvement with the Diagnosis Unexpectedly Found at Lung Operation

Electrophysiological features of familial amyloid polyneuropathy in endemic area

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