Familial amyloid neuropathy
Familial amyloid neuropathy | |
---|---|
Classification and external resources | |
Specialty | endocrinology |
ICD-10 | E85.1 |
ICD-9-CM | 277.3 |
MeSH | D028227 |
The familial amyloid neuropathies (or familial amyloidotic neuropathies, neuropathic heredofamilial amyloidosis, familial amyloid polyneuropathy) are a rare group of autosomal dominant diseases wherein the autonomic nervous system and/or other nerves are compromised by protein aggregation and/or amyloid fibril formation.[1][2][3]
Classification
The aggregation of one precursor protein leads to peripheral neuropathy and/or autonomic nervous system dysfunction. These proteins include: transthyretin (ATTR, the most commonly implicated protein), apolipoprotein A1, and gelsolin.[4]
Due to the rareness of the other types of familial neuropathies, transthyretin amyloidogenesis-associated polyneuropathy should probably be considered first.[5]
"FAP-I" and "FAP-II" are associated with transthyretin.[1][6] (Senile systemic amyloidosis is also associated with transthyretin aggregation.)
"FAP-III" is also known as "Iowa-type", and involves apolipoprotein A1.[7]
"FAP-IV" is also known as "Finnish-type", and involves gelsolin.[8]
Fibrinogen, apolipoprotein A1, and lysozyme are associated with a closely related condition, familial visceral amyloidosis.
Treatment
Liver transplantation has proven to be effective for ATTR familial amyloidosis due to Val30Met mutation.[9]
Alternatively, a European Medicines Agency approved drug Tafamidis or Vyndaqel now exists which stabilizes transthyretin tetramers comprising wild type and different mutant subunits against amyloidogenesis halting the progression of peripheral neuropathy and autonomic nervous system dysfunction.[10]
Currently there are two ongoing clinical trials undergoing recruitment in the United States and worldwide to evaluate investigational medicines that could possibly treat TTR.[11][12]
References
- 1 2 Andrade C (September 1952). "A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves". Brain. 75 (3): 408–27. doi:10.1093/brain/75.3.408. PMID 12978172.
- ↑ Kelly JW (February 1996). "Alternative conformations of amyloidogenic proteins govern their behavior". Curr. Opin. Struct. Biol. 6 (1): 11–7. doi:10.1016/S0959-440X(96)80089-3. PMID 8696966.
- ↑ Dobson CM (December 2003). "Protein folding and misfolding". Nature. 426 (6968): 884–90. doi:10.1038/nature02261. PMID 14685248.
- ↑ Ghoshdastider U, Popp D, Burtnick LD, Robinson RC (2013). "The expanding superfamily of gelsolin homology domain proteins". Cytoskeleton (Hoboken). 70 (11): 775–95. doi:10.1002/cm.21149. PMID 24155256.
- ↑ Delahaye N, Rouzet F, Sarda L, et al. (July 2006). "Impact of liver transplantation on cardiac autonomic denervation in familial amyloid polyneuropathy". Medicine (Baltimore). 85 (4): 229–38. doi:10.1097/01.md.0000232559.22098.c3. PMID 16862048.
- ↑ "Amyloid".
- ↑ "Amyloid".
- ↑ Akiya S, Nishio Y, Ibi K, et al. (July 1996). "Lattice corneal dystrophy type II associated with familial amyloid polyneuropathy type IV". Ophthalmology. 103 (7): 1106–10. doi:10.1016/s0161-6420(96)30560-5. PMID 8684801.
- ↑ "ATTR Famililial Amyloidosis". BU – Amyloid Treatment & Research Program.
- ↑ Hammarström P, Wiseman RL, Powers ET, Kelly JW (January 2003). "Prevention of transthyretin amyloid disease by changing protein misfolding energetics". Science. 299 (5607): 713–6. doi:10.1126/science.1079589. PMID 12560553.
- ↑ https://clinicaltrials.gov/ct2/show/NCT01960348
- ↑ http://apollotrial.com/
External links
- Reference centre for familial amyloid polyneuropathy
- World wide clinical trial for the evaluation of an investigational medicine for the possible treatment of Familial Amyloidotic Polyneuropathy (FAP