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for this condition. The FDA rejected the application for marketing approval in the US in 2012 on the basis that the clinical trial data did not show efficacy based on a functional endpoint, and the FDA requested further clinical trials.
40:
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Andrade C (September 1952). "A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves".
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Due to the rareness of the other types of familial neuropathies, transthyretin amyloidogenesis-associated polyneuropathy should probably be considered first.
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Akiya S, Nishio Y, Ibi K, et al. (July 1996). "Lattice corneal dystrophy type II associated with familial amyloid polyneuropathy type IV".
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can also be used to confirm a mutation in the TTR gene. Although some people with a hATTR gene mutation may not experience symptoms.
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Ghoshdastider U, Popp D, Burtnick LD, Robinson RC (2013). "The expanding superfamily of gelsolin homology domain proteins".
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Kelly JW (February 1996). "Alternative conformations of amyloidogenic proteins govern their behavior".
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423:"Impact of liver transplantation on cardiac autonomic denervation in familial amyloid polyneuropathy"
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has proven to be effective for ATTR familial amyloidosis due to Val30Met mutation.
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Diagnosis is confirmed by blood tests, organ biopsies, and tissue biopsies.
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are compromised by protein aggregation and/or amyloid fibril formation.
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and/or autonomic nervous system dysfunction. These proteins include:
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Said, G; Grippon, S; Kirkpatrick, P (1 March 2012). "Tafamidis".
119:) are a rare group of autosomal dominant diseases wherein the
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Dobson CM (December 2003). "Protein folding and misfolding".
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171:"FAP-III" is also known as "Iowa-type", and involves
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is also associated with transthyretin aggregation.)
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may be too technical for most readers to understand
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135:The aggregation of one precursor protein leads to
200:are associated with a closely related condition,
600:"FDA rejects Pfizer rare disease drug tafamidis"
421:, Rouzet F, Sarda L, et al. (July 2006).
143:(ATTR, the most commonly implicated protein),
538:BU – Amyloid Treatment & Research Program
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59:Learn how and when to remove this message
43:, without removing the technical details.
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113:neuropathic heredofamilial amyloidosis
41:make it understandable to non-experts
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440:10.1097/01.md.0000232559.22098.c3
109:familial amyloidotic neuropathies
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117:familial amyloid polyneuropathy
598:Grogan, Kevin (19 June 2012).
557:Nature Reviews. Drug Discovery
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534:"ATTR Famililial Amyloidosis"
512:10.1016/s0161-6420(96)30560-5
303:10.1016/S0959-440X(96)80089-3
202:familial visceral amyloidosis
105:familial amyloid neuropathies
123:nervous system and/or other
178:"FAP-IV" is also known as "
166:Senile systemic amyloidosis
77:Familial amyloid neuropathy
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227:European Medicines Agency
291:Curr. Opin. Struct. Biol
699:Neurological disorders
268:10.1093/brain/75.3.408
220:Liver transplantation
137:peripheral neuropathy
427:Medicine (Baltimore)
160:are associated with
158:"FAP-I" and "FAP-II"
346:10.1038/nature02261
338:2003Natur.426..884D
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194:apolipoprotein A1
173:apolipoprotein A1
145:apolipoprotein A1
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71:Medical condition
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694:Amyloidosis
297:(1): 11–7.
688:Categories
419:Delahaye N
238:References
190:Fibrinogen
585:256746210
485:"Amyloid"
471:"Amyloid"
405:205643538
231:tafamidis
229:approved
215:Treatment
121:autonomic
83:Specialty
49:June 2009
577:22378262
457:25723585
449:16862048
397:24155256
354:14685248
276:12978172
198:lysozyme
184:gelsolin
149:gelsolin
672:D028227
520:8684801
362:1036192
334:Bibcode
311:8696966
35:Please
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326:Nature
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196:, and
147:, and
125:nerves
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661:277.3
646:E85.1
581:S2CID
453:S2CID
401:S2CID
358:S2CID
256:Brain
667:MeSH
656:9-CM
573:PMID
516:PMID
445:PMID
393:PMID
350:PMID
307:PMID
272:PMID
107:(or
103:The
652:ICD
637:ICD
565:doi
508:doi
504:103
435:doi
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