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Amyloid
The Journal of Protein Folding Disorders
Volume 22, 2015 - Issue 4
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Letter to the Editor

Two brothers homozygous for the TTR V30M both presenting with a phenotype dominated by central nervous complications

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Pages 261-262 | Received 24 Aug 2015, Accepted 04 Oct 2015, Published online: 20 Nov 2015

References

  • Jin K, Sato S, Takahashi T, Nakazaki H, Date Y, Nakazato M, Tominaga T, et al. Familial leptomeningeal amyloidosis with a transthyretin variant Asp18Gly representing repeated subarachnoid haemorrhages with superficial siderosis. J Neurol Neurosurg Psychiatry 2004;75:1463–6
  • Ueda M, Misumi Y, Mizuguchi M, Nakamura M, Yamashita T, Sekijima Y, Ota K, et al. SELDI-TOF mass spectrometry evaluation of variant transthyretins for diagnosis and pathogenesis of familial amyloidotic polyneuropathy. Clin Chem 2009;55:1223–7
  • Holmgren G, Hellman U, Lundgren H-E, Sandgren O, Suhr OB. Impact of homozygosity for an amyloidogenic transthyretin mutation on phenotype and long term outcome. J Med Genet 2005;42:953–6
  • Tojo K, Sekijima Y, Machida K, Tsuchiya A, Yazaki M, Ikeda S. Amyloidogenic transthyretin Val30Met homozygote showing unusually early-onset familial amyloid polyneuropathy. Muscle Nerve 2008;37:796–803
  • Maia LF, Magalhães R, Freitas J, Taipa R, Pires MM, Osorio H, Dias D, et al. CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings. J Neurol Neurosurg Psychiatry 2015;86:159–67

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