You are viewing the site in preview mode

Skip to main content

Table 1 n = patient number; M = male, F = female, ST/LT = short/long treatment

From: One-year outcome of coenzyme Q10 supplementation in ADCK3 ataxia (ARCA2)

ngroupsexvariantsageonsetphenotype
1STMc.901C > T; p.R301W c.1331_1332insCACAG; p.Glu446AlafsTer33103ataxia, tremor, epilepsy, mild intelectual retardation
2STMc.901C > T; p.R301W c.1331_1332insCACAG p.Glu446AlafsTer3373ataxia, mild intelectual retardation
3LTFc.1844G > A; p.G615D - c.589-3C > G p.Leu197Valfs*2086ataxia, tremor
4LTFc.901C > T; p.R301W c.589-3C > G (splice)132epilepsy, mild intelectual retardation
 T0 - Baseline
 n SARA6MWT9-HPTT25-FWFoot Off (%gait cycle)Stride Velocity (m/sec)Stride Length (m)Stride Time (sec)Stride Width (m)Step Length (m)Stance Time (sec)Swing Time (sec)Double support (sec)
 1 11,50419,5539,106,6558,671,061,101,030,200,550,610,430,08
 2 14,50403,2847,007,8057,580,680,761,140,210,410,650,490,10
 3 10,00468,4038,606,3061,481,071,151,070,160,580,660,410,12
 4 10,00507,6043,805,0958,281,071,020,960,190,510,560,400,07
 STmean13,00411,4243,057,2358,130,870,931,090,210,480,630,460,09
st.dev2,1211,505,590,810,770,270,230,080,000,100,030,040,01
 LTmean10,00488,0041,205,7059,881,071,091,020,180,540,610,410,10
st.dev0,0027,723,680,862,260,000,090,080,020,050,070,010,04
T1–6 months
 STmean13,75443,1540,806,3860,120,860,941,090,160,460,660,440,11
st.dev1,778,981,271,041,530,150,150,010,010,100,030,010,03
 LTmean9,75454,7540,095,6057,241,221,180,980,200,590,560,420,07
st.dev1,067,420,260,762,040,130,020,120,020,010,090,030,01
T2–12 months
 STmean14,25431,0041,9511,559,051,011,001,010,160,500,600,410,11
st.dev1,0635,361,480,712,660,140,010,160,030,020,120,040,04
 LTmean9,00475,2541,145,3959,031,191,140,960,180,570,570,390,10
st.dev0,0029,910,330,543,020,010,070,070,030,040,070,000,04
Back to article page

Cerebellum & Ataxias

ISSN: 2053-8871

\