Familial amyloid neuropathy

Familial amyloid neuropathy
Familial amyloid polyneuropathy (FAP) type IV (FINNISH)

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 [abbreviated "SSA"] 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.

Cause

The cause of Familial amyloid neuropathy is thought to be —the TTR Val30Met mutation.[9]

Diagnosis

Diagnosis is confirmed by blood tests, organ biopsies, and tissue biopsies. Genetic testing can also be used to confirm a mutation in the TTR gene. Although some people with a hATTR gene mutation may not experience symptoms.

In terms of diagnosis we find that electromyography and nerve conduction tests are done, based on this the following is observed in the evaluation:[9]

  • Family history of neuropathy
  • Neurological impairment
  • Temperature sensation in lower limbs

Treatment

Liver transplantation has proven to be effective for ATTR familial amyloidosis due to Val30Met mutation.[10]

In 2011 the European Medicines Agency approved tafamidis for this condition.[11] 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.[12]

References

  1. 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.
  2. ↑ 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.
  3. ↑ Dobson CM (December 2003). "Protein folding and misfolding". Nature. 426 (6968): 884–90. Bibcode:2003Natur.426..884D. doi:10.1038/nature02261. PMID 14685248. S2CID 1036192.
  4. ↑ Ghoshdastider U, Popp D, Burtnick LD, Robinson RC (2013). "The expanding superfamily of gelsolin homology domain proteins". Cytoskeleton. 70 (11): 775–95. doi:10.1002/cm.21149. PMID 24155256. S2CID 205643538.
  5. ↑ 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. S2CID 25723585.
  6. ↑ "Amyloid". Archived from the original on 2019-02-17. Retrieved 2022-07-07.
  7. ↑ "Amyloid". Archived from the original on 2019-02-17. Retrieved 2022-07-07.
  8. ↑ 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.
  9. 1 2 Planté-Bordeneuve, Violaine; Said, Gerard (December 2011). "Familial amyloid polyneuropathy". The Lancet Neurology. 10 (12): 1086–1097. doi:10.1016/S1474-4422(11)70246-0. Archived from the original on 27 February 2023. Retrieved 27 February 2023.
  10. ↑ "ATTR Famililial Amyloidosis". BU – Amyloid Treatment & Research Program. Archived from the original on 2008-07-06.
  11. ↑ Said, G; Grippon, S; Kirkpatrick, P (1 March 2012). "Tafamidis". Nature Reviews. Drug Discovery. 11 (3): 185–6. doi:10.1038/nrd3675. PMID 22378262.
  12. ↑ Grogan, Kevin (19 June 2012). "FDA rejects Pfizer rare disease drug tafamidis". Pharma Times. Archived from the original on 2 June 2021. Retrieved 7 July 2022.
Classification
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