Table 1

Available clinical and demographic information for whole blood and buccal cell samples collected from volunteers for frataxin protein analysis by lateral flow immunoassay

Demographic information by collected sample typeSex (M/F)Mean age/ age of onsetMean GAA1/GAA2
Whole blood
 Control (n=67)33/2739.3/– (n=60)–/–
 Carrier (n=143)56/8349.1/– (n=139)–/–
 cFRDA (n=246)125/11526.1/11.3 (n=239/228)647.8/907.2 (n=220/218)
 LOFA (n=35)17/1855.7/36.7 (n=35/35)216.5/804.2 (n=35/35)
 pFRDA (n=12)7/524.9/11.2 (n=12/12)–/740.2 (n=12)
Buccal cells
 Control (n=93)46/4538.2/– (n=84)–/–
 Carrier (n=271)118/14146.5/– (n=253)–/–
 cFRDA (n=288)138/14427.2/12.6 (n=331/314)623.5/901.5 (n=295/303)
 LOFA (n=28)14/1454.0/35.7 (n=28/28)258.6/882.3 (n=27/27)
 pFRDA (n=16)8/828.9/10.1 (n=16/16)–/794.4 (n=16)
  • cFRDA, classic Friedreich ataxia; LOFA, late-onset Friedreich ataxia; pFRDA: point mutation Friedreich ataxia.