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 | - | - | - | - | - | - |