Table 1 Clinical characteristics, evolution and functional disability of AOA1, AOA2 and AT patients.

From: Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein

n=

AOA1

AOA2

AT

p

12

11

17

Age at onset (y)

4.5 [2–47]

12 [6.5–30]**

6 [0.8–39]**

** < 0.01

Age at last follow up (y)

37 [18.1–59.2]

37.8 [22.1–52.3]

32.9 [25.7–56.2]

0.9772

DD at last follow up

23.5 [5–42]

25.3 [9.7–41]

25 [13.8–53.9]

0.634

Ataxia and functional disability

 Cerebellar ataxia

12/12 (100)

11/11 (100)

16/16 (100)

 

 Dysarthria

12/12 (100)

10/10 (100)

16/16 (100)

 

 Nystagmus

6/10 (60)

6/6 (100)

10/16 (63)

0.2157

 SARA at time of VO

23.5 [12–35]

22 [17.5–30]

20.3 [7.5–33]

0.4418

 SDFS at time of VO

5 [3–6]

6 [3–6]

4 [1–7]

0.4639

Associated signs

Areflexia

12/12 (100)

11/11 (100)

14/16 (88)

 

Vibration sense loss

11/11 (100)

9/9 (100)

7/10 (70)

 

Muscle wasting

3/7 (42.9)

6/11 (54.5)

8/16 (50)

1

Motor deficit

6/11 (54.5)

7/11 (63.6)

10/17 (58.8)

1

Pes cavus

3/7 (42.9)

3/11 (27.3)

3/8 (37.5)

0.7915

Scoliosis

1/6 (20)

2/9 (22.2)

4/15 (26.7)

0.8808

Pyramidal signs

2/11 (18.2)

2/11 (18.2)

6/17 (35.3)

0.5855

Telangiectasia

0

0

5/10 (50)

 

Hearing loss

0

0

1/7 (14)

 

Recurrent infections

0

0

5/17 (29)

 

Movement Disorders

Dystonia

4/11 (36.4)*

10/11 (90.9)*

14/17 (82.4)

* < 0.05

Chorea

6/11 (54.6)

5/11 (45.5)

4/17 (23.5)

0.2643

Myoclonus

2/11 (18.2)a

1/10 (10) a

11/17 (64.7)

a < 0.05

Tremor

4/11 (36.4)

5/10 (45.5)

2/15 (13.3)

0.2113

Parkinsonism

1/11 (9.1)

0

5/15 (33.3)

0.0557

Evolution and severity

 SARA/DD at time of VO

1 [0.6–2.4]

0.9 [0.6–1.9]

0.9 [0.2–1.8]

0.4604

 SDFS/DD at time of VO

0.21 [0.1–0.6]

0.24 [0.1–0.4]

0.20 [0.02–0.4]

0.2888

 Median age to wheelchair (y)

33.1

40

44

0.9021

 Median DD to wheelchair (y)

23

20

42

0.6115

 % in wheelchair at age 15

8.3

0

29.4

0.077

  1. Categorical variables are expressed as the ratio of the number of patients presenting the symptom to the total number of patients assessed and as percentages [n/N (%)]; continuous variables as median [range]. Median age and disease duration to wheelchair were calculated by the Kaplan–Meier method.
  2. The SARA and SDFS rates of decline (points per year; SARA/DD and SDFS/DD), defined as respectively SARA and SDFS scores (maximum - minimum)/disease duration, are indexes of disease progression.
  3. *Significant differences after Bonferroni-Holm post-test between the AOA1 and AOA2 groups.
  4. **Significant differences after Bonferroni-Holm post-test between the AOA2 and AT groups.
  5. aSignificant differences after Bonferroni-Holm post-test relative to the AT group.
  6. Abbreviations: AOA1: ataxia with oculomotor apraxia type 1, AOA2: ataxia with oculomotor apraxia type 2, AT: Ataxia-Telangiectasia; DD: Disease Duration; SARA: Scale for the Assessment and Rating of Ataxia; SDFS: Spinocerebellar degeneration functional score; VO: video-oculography; y: years.
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