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doi:10.1007/s10072-012-1105-y.This article reports on an Italian center for peripheral neuropathy; their experience in diagnosing TTR-FAP during a 15 year period. They suggest that we should consider, to avoid misdiagnosis, the screening for TTR mutations in patients presenting with progressive axonal polyneuropathy of undetermined etiology, including apparently sporadic cases with pathological examinations negative for amyloid deposition
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doi:10.1111/ene.12225. This study reports the effect of tafamidis in advanced cases of Met30 TTR-FAP assessed with varied functional scores, progression of NIS-UL and NIS-LL scores in most of patients and worsening of walking disability and onset of postural hypotension in 20% of cases in a year of follow-up
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doi:10.1002/mus.22229. The authors report on 3 cases of patients fulfilling clinical and neurophysiological criteria of CIDP who finally were diagnosed as TTR-FAP after amyloid deposit finding in nerve biopsy and TTR gene analysis
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Lozeron P, Lacroix C, Theaudin M, Richer A, Gugenheim M, Adams D, et al. An amyotrophic lateral sclerosis-like syndrome revealing an amyloid polyneuropathy associated with a novel transthyretin mutation. Amyloid. 2013;20:188-92. doi:10.3109/13506129.2013.818535.
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34
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doi:10.1056/NEJMoa1201356. This article reports on a new biochemical variant of TTR-FAP beta2-microglobulin in a family with diarrhea and weight loss, with persistent sicca syndrome
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•• Valleix S, Gillmore JD, Bridoux F, Mangione PP, Dogan A, Nedelec B, et al. Hereditary systemic amyloidosis due to Asp76Asn variant beta2-microglobulin. N Engl J Med. 2012;366:2276-83. doi:10.1056/NEJMoa1201356. This article reports on a new biochemical variant of TTR-FAP beta2-microglobulin in a family with diarrhea and weight loss, with persistent sicca syndrome.
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36
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doi:10.1136/jnnp-2013-305383. This study, from the national Portuguese reference center of amyloidosis, showed, by analyzing 926 parent-offspring pairs at the age of onset (AO), that: (1) women had significantly higher age at onset (36); (2) 291 pairs showed marked anticipation (≥10 years), the transmitting parent was the mother in two-thirds of the cases; (3) more interestingly, patients with a late onset (50-70 years) had a 93% risk to have offspring with early AO (AO <50 years); and those with very late AO (>70 years) a 53% risk to have offspring with early AO
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•• Lemos C, Coelho T, Alves-Ferreira M, Martins-da-Silva A, Sequeiros J, Mendonca D, et al. Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M. J Neurol Neurosurg Psychiatry. 2013. doi:10.1136/jnnp-2013-305383. This study, from the national Portuguese reference center of amyloidosis, showed, by analyzing 926 parent-offspring pairs at the age of onset (AO), that: (1) women had significantly higher age at onset (36); (2) 291 pairs showed marked anticipation (≥10 years), the transmitting parent was the mother in two-thirds of the cases; (3) more interestingly, patients with a late onset (50-70 years) had a 93% risk to have offspring with early AO (AO <50 years); and those with very late AO (>70 years) a 53% risk to have offspring with early AO.
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Lemos, C.1
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Azevedo Coutinho, M.C.1
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