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Table 1 Clinical features of 10 patients from three families with CAPOS syndrome

From: A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

 

Family 1 (Previously reported by Nicolaides et al., 1996[1])

Family 2

Family 3

Subject

II-1

III-1a

III-2

I-2

II-1

II-2a

II-3

I-1a

II-1

II-2

Current age

49 yr

22 yr

20 yr

43 yr

15 yr

14 yr

10 yr

40 yr

15 yr

11 yr

Episodes of ataxic encephalopathy and/or weakness

  Age of onset

18 m

16 m

9 m

6 m

9 m

5 yr

18 m

3 yr

1 yr

3 yr

  Number of episodes

1

3

1

2

3

1

1

3

3

2

  Episodes triggered by febrile illness

+

+

+

+

+

+

+

+

+

+

  Age of last episode

18 m

4 yr

9 m

4 yr

7 yr

5 yr

18 m

25 yr

18 m

5 yr

  Abnormal eye movements

-

-

-

+

+

-

+

+

+

-

  Dysphagia

-

-

-

-

+

-

-

+b

-

-

  Seizures

-

-

-

-

+c

-

-

-

-

-

Symptoms present at most recent examination

  Age at most recent exam

49 yr

22 yr

20 yr

42 yr

14 yr

13 yr

9 yr

39 yr

14 yr

10 yr

  Cerebellar ataxia

+

+

+

+

+

+

+

+

+

+

  Areflexia

+

+

+

+

+

+

+

+

+

+

  Pes cavus

+

+

-

+

-

-

-

-

-

-

  Optic atrophy

+

+

+

+

+

+

+

+

+

+

  Sensorineural hearing loss

+

+

+

+

+

+

+

+

+

+

  Dystonia

-

-

-

+d

-

-

-

-

-

-

  Urinary symptoms

-

-

-

-

-

-

-

+e

-

-

  Autonomic dysfunction

-

-

-

-

-

-

-

-

-

-

  Cognitive dysfunction

-

-

-

-

+f

-

-

-

-

-

  Autistic traits

-

-

-

-

-

-

-

-

+g

+g

  Cardiac arrhythmia

-

-

-

+h

-

-

-

-

-

-

  1. Abbreviations used: m, months; yr, years; +, present; -, absent or not noted.
  2. aProband.
  3. bMild persistent dysphagia was noted by age 32 years.
  4. cBrief focal seizures (unilateral arm jerking) developed in association with first episode of fever and ataxic encephalopathy.
  5. dPatient developed cervical dystonia responsive to onabotulinumtoxinA injections at age 32 years.
  6. eUrinary urgency and frequency were noted by age 32 years.
  7. fPatient was assessed at age 10 years for school difficulties and found to have low average to average IQ and reduced attention skills.
  8. gSiblings II-1 and II-2 of family 3 were noted to have repetitive behaviours and social difficulties at age 10 and 4 years, respectively.
  9. hPatient was diagnosed with Wolff-Parkinson-White syndrome at age 24 years.