Abstract
The number of amyloidogenic transthyretin (TTR) mutations described in the literature is more than 100. However, for several mutations, the phenotype has been described in a few individuals only; thus, the knowledge of the clinical course and the outcome after therapeutical interventions such as liver transplantation is limited. We describe the phenotype associated with five rare amyloidogenic TTR mutations that lately were discovered in Sweden: ATTR Val30Leu, Ala45Ser, Leu55Gln, Gly57Arg and Tyr69His of which ATTR Gly57Arg is previously unknown. The symptoms at onset differed, but cardiomyopathy and peripheral neuropathy were observed in all except the ATTR Tyr69His mutation. Likewise, carpal tunnel syndrome was found or had been present in all cases except the case with the ATTR Val30Leu mutation. The phenotype of the ATTR Tyr69His mutation was characterised by oculo-meningeal symptoms with seizures and a steadily progressing dementia, symptoms rarely found in ATTR amyloidosis, but similar to those previously described for this mutation, where all cases appear to originate from one Swedish family. Two patients with the ATTR Leu55Gln and Ala45Ser mutations have been subjected to liver transplantation, but echocardiographic exa...Continue Reading
References
Jul 20, 1992·FEBS Letters·M NakazatoH Matsuo
May 1, 1994·Journal of Medical Genetics·G HolmgrenP P Costa
Oct 15, 1996·Transplantation·Y AndoM Ando
Dec 8, 1998·Muscle & Nerve·K UtsugisawaM Mihara
Jun 8, 2000·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·T JanungerK Tashima
Feb 1, 2003·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Masahide YazakiMerrill D Benson
May 29, 2003·Neurology·G BlevinsJ R Donat
Dec 3, 2003·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Lawreen Heller ConnorsCatherine E Costello
Feb 18, 2004·Transplantation·Yukio AndoYukihiro Inomata
Feb 28, 2004·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Takeshi HattoriShu-ichi Ikeda
Aug 24, 2005·Journal of Internal Medicine·S MörnerA Waldenström
Oct 1, 2005·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Gösta HolmgrenOle B Suhr
Oct 26, 2006·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Ole B SuhrChrister Backman
Jun 8, 2007·Muscle & Nerve·Merrill D Benson, John C Kincaid
Jan 9, 2008·Neurology·T YamashitaM Uchino
Citations
Sep 17, 2013·Neurotoxicology·Vai Hong Fong, Amandio Vieira
Sep 4, 2012·Current Opinion in Neurology·David AdamsCatherine Lacroix
Apr 11, 2015·Journal of the Peripheral Nervous System : JPNS·Carolina Lavigne MoreiraWilson Marques
Jul 15, 2015·Acta Neuropathologica Communications·Jennifer L ZiskinEdward D Plowey
Dec 10, 2014·Journal of Neurology·P McColganM M Reilly
Nov 15, 2011·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Sadahisa OkamotoOle B Suhr
Feb 28, 2015·European Journal of Medical Genetics·Urban HellmanOle B Suhr
Jul 2, 2019·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Yumi YamadaYoshiki Sekijima
Mar 12, 2010·British Journal of Hospital Medicine·Simon D J Gibbs, Philip N Hawkins
Dec 19, 2019·International Journal of Molecular Sciences·Pablo CisternasCristian A Lasagna-Reeves
Jun 13, 2020·Frontiers in Neuroscience·Sandra M Díaz-RodríguezDolores E Lopéz
Sep 22, 2020·Brain Communications·Armindo FernandesRicardo Taipa
Apr 18, 2017·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Katrine M MüllertzHenning Mølgaard
Nov 25, 2018·Journal of Neurology·Kuan FanHao Deng
Sep 15, 2018·Human Molecular Genetics·Encarnación Medina-CarmonaAngel L Pey
Oct 20, 2021·Neurology·Luísa SousaRicardo Taipa