Familial progressive bilateral facial paralysis in Finnish type hereditary amyloidosis

Analyses Mutations in GSN, CST3, TTR, and ITM2B Genes in Chinese Patients With Alzheimer’s Disease

“…The GSN gene is located on the chromosome 9q33.2 and is inherited by dominance. Up to now, seven pathogenic mutations in the GSN gene have been reported in worldwide, namely A34fs, G194R, N211K, D214N, D214Y, P459R, and A578P ( Figure 2 and Table 4 , Hiltunen et al, 1991 ; Stewart et al, 2000 ; Conceição et al, 2003 ; Chastan et al, 2006 ; Ardalan et al, 2007 ; Huerva et al, 2007 ; Carrwik and Stenevi, 2009 ; Luttmann et al, 2010 ; Makioka et al, 2010 ; Asahina et al, 2011 ; Solari et al, 2011 ; Taira et al, 2012 ; Sethi et al, 2013 ; Efebera et al, 2014 ; Park et al, 2016 ; Caress et al, 2017 ; de Souza et al, 2017 ; Feng et al, 2018 ; Mustonen et al, 2018 ; Oregel et al, 2018 ; Sridharan et al, 2018 ). The D214N/Y mutation is the most common mutation and could cause the disease of FAF, which mainly manifested as corneal lattice dystrophy, cranial neuropathy, peripheral neuropathy, and cutis laxa (Nikoskinen et al, 2015 ).…”

“…USA (Efebera et al, 2014) Gelsolin-related renal amyloidosis Kidney Nephrotic range proteinuria of 13.2 g/day as the only presenting symptom. D214N/Y Finland (Hiltunen et al, 1991;Mustonen et al, 2018), USA (Caress et al, 2017), Japan (Makioka et al, 2010;Asahina et al, 2011;Taira et al, 2012), Spain (Huerva et al, 2007), France (Chastan et al, 2006), Portugal (Conceição et al, 2003), England (Stewart et al, 2000), Iran (Ardalan et al, 2007), Brazil (Solari et al, 2011;de Souza et al, 2017), Sweden (Carrwik and Stenevi, 2009), Germany (Luttmann et al, 2010), Korea (Park et al, 2016 USA (Sridharan et al, 2018) ATTR (transthyretin amyloidosis)…”