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Amyloid
The Journal of Protein Folding Disorders
Volume 20, 2013 - Issue 3
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Case Report

An amyotrophic lateral sclerosis-like syndrome revealing an amyloid polyneuropathy associated with a novel transthyretin mutation

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Pages 188-192 | Received 12 Mar 2013, Accepted 07 Jun 2013, Published online: 05 Aug 2013

References

  • Benson MD, Kincaid JC. The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve 2007;36:411–23
  • Adams D, Lozeron P, Theaudin M, Mincheva Z, Cauquil C, Adam C, Signate A, et al. Regional difference and similarity of familial amyloidosis with polyneuropathy in France. Amyloid 2012;19:61–4
  • Yoshioka A, Yamaya Y, Saiki S, Hirose G, Shimazaki K, Nakamura M, Ando Y. A case of familial amyloid polyneuropathy homozygous for the transthyretin Val30Met gene with motor-dominant sensorimotor polyneuropathy and unusual sural nerve pathological findings. Arch Neurol 2001;58:1914–18
  • Salvi F, Scaglione C, Michelucci R, Linke RP, Obici L, Ravani A, Rimessi P, et al. Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu. Amyloid 2003;10:185–9
  • Riboldi G, Del Bo R, Ranieri M, Magri F, Sciacco M, Moggio M, Bresolin N, et al. Tyr78Phe transthyretin mutation with predominant motor neuropathy as the initial presentation. Case Rep Neurol 2011;3:62–8
  • Salvi F, Pastorelli F, Plasmati R, Bartolomei I, Dall'Osso D, Rapezzi C. Genotypic and phenotypic correlation in an Italian population of hereditary amyloidosis TTR-related (HA-TTR): clinical and neurophysiological aids to diagnosis and some reflections on misdiagnosis. Amyloid 2012;19:58–60
  • Ando Y, Ueyama H, Watanabe S, Miyaji M, Tanaka Y, Ando M, Araki S. Early involvement of motor nerve dysfunction in atypical cases with familial amyloidotic polyneuropathy (FAP) type I. Muscle Nerve 1993;16:978–9
  • Cappellari M, Cavallaro T, Ferrarini M, Cabrini I, Taioli F, Ferrari S, Merlini G, et al. Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. J Peripher Nerv Syst 2011;16:119–29
  • Yamashita T, Ando Y, Okamoto S, Misumi Y, Hirahara T, Ueda M, Obayashi K, et al. Long-term survival after liver transplantation in patients with familial amyloid polyneuropathy. Neurology 2012;78:637–43
  • Brooks BR. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial “Clinical limits of amyotrophic lateral sclerosis” workshop contributors. J Neurol Sci 1994;124:96–107
  • Rowland LP. Progressive muscular atrophy and other lower motor neuron syndromes of adults. Muscle Nerve 2010;41:161–5
  • Koike H, Hashimoto R, Tomita M, Kawagashira Y, Iijima M, Tanaka F, Sobue G. Diagnosis of sporadic transthyretin Val30Met familial amyloid polyneuropathy: a practical analysis. Amyloid 2011;18:53–62
  • Cassereau J, Lavigne C, Letournel F, Ghali A, Verny C, Dubas F, Devière F, et al. Hereditary amyloid neuropathy by transthyretin Val107 mutation in a patient of African origin. J Peripher Nerv Syst 2008;13:251–4
  • Lattante S, Conte A, Zollino M, Luigetti M, Del Grande A, Marangi G, Romano A, et al. Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease. Neurology 2012;79:66–72
  • Adams D, Lozeron P, Lacroix C. Amyloid neuropathies. Curr Opin Neurol 2012;25:564–72
  • Coelho T, Maia LF, Martins da Silva A, Waddington Cruz M, Planté-Bordeneuve V, Lozeron P, Suhr OB, et al. Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial. Neurology 2012;79:785–92

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