Clinical Study

High-Resolution Melting (HRM) Analysis of the Cu/Zn Superoxide Dismutase (SOD1) Gene in Japanese Sporadic Amyotrophic Lateral Sclerosis (SALS) Patients

Table 2

SOD1 mutations in SALS patients of the different countries.

CountryTotal SALSNo. of SOD1 SOD1/TotalMutations identifiedScreening methodAuthor, year

North England4612.1D101NSSCPJones et al. 1994 [14]
Scotland5747.0E21K, I113TSSCPJones et al. 1995 [2, 15]
Scandinavia355143.9V14G, D90A (hetero & homo)SSCPAndersen et al. 1997 [16]
England15542.6D90A, I113T, V118KTGPXSSCPJackson et al. 1997 [17]
England17552.8G72SSSCPShaw et al. 1998 [18]
Belgium6934.3D90A, N139N, IVS + 19A > GSSCPAguirre et al. 1999 [3]
Italy4836.3D90A (homo), I113T, A95TDSGellera et al. 2001 [22]
Spain8711.2N65SSSCPGarcía-Redondo et al. 2002 [19]
Italy22500SSCPBatlistini et al. 2005 [20]
Spain (Catalonia)9444.2D90A, N139H, A140ADSGamez et al. 2006 [4]
Italy6634.5K135X, N65S, A95TDHPLCCorrado et al. 2006 [5]
Italy3032066N19S, E133ΔEDHPLCChiò et al. 2008 [6]
Japan18431.6C6Y, Q22H, S134THRMThis article group1
Japan25541.5K3E, G93SHRMThis article group2

Total2119512.4

DS: direct sequence (no screening method in the article).