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Table 1 Clinical and neuroradiological features of 21 patients with "congenital ocular motor apraxia type Cogan" (COMA)

From: Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study

Patient # (origin) Sex Current age (years) Affected/unaffected siblings Development Neurological findings MRI features Diagnostic assignment
     Unaided walking at age (months) Speech delay Ocular apraxia [age at onset (months)/course/age at disappearance] Early onset ataxia Cognitive development Seizures   
1 (A) f 4 0/1 18 Yes 3/↓/- Yes Learning disability No MTS, vermian hypo-/dysplasia JBTS
2 (D) m 7 0/0 27 Yes 8/↓/- Yes Learning disability No MTS, superior vermian hypoplasia, slightly enlarged external csf spaces JBTS
3 (D) f 12 0 / 1 20 No 3/↓/- No Normal No Normal COMA
4 (D) m 18 0/1 30 Yes 3/↓/- Yes Learning disability No MTS, superior vermian dysplasia JBTS
5 (TR) f 5 0/2 30 Yes 4/↓/- Yes Intellectual disability No MTS, superior vermian hypo-/dysplasia JBTS
6 (D) f 4 0/1 27 No 6/↓/- Yes Normal Yes vermian dysplasia, otherwise normal COMA
7 (TR) m 18 0/1 20 Yes 6/↔/- Yes Normal No Cerebellar cysts, cerebellar hypoplasia, square 4th ventricle Poretti-Boltshauser syndrome
8 (D) m 24 1 (#9)/1 24 Yes 6/↓/4 years Yes Intellectual disability No MTS, vermian hypo-/dysplasia JBTS
9 (D) f 21 1 (#8)/1 14 Yes 11/↓/5 years Yes Learning disability No MTS, otherwise normal JBTS
10 (T) m 9 0/3 24 Yes 6/↓/- Yes Learning disability Yes Inferior vermian dysplasia, large cerebellum, slight caudal extension of cerebellar tonsils COMA
11 (D) m 16 0/3a 27 Yes 2/↓/- No Normal No Normal COMA
12 (D) f 6 0/0 20 Yes 10/↓/- Yes Normal No Normal COMA
13 (D/UK) m 2 0/2a 27 No 8/↓/- Yes Normal No MTS, otherwise normal (mild superior vermian hypo-/dysplasia??) JBTS
14 (CH) m 7 0/1 24 Yes 6/↓/- Yes Normal No mild vermian dysplasia, otherwise normal COMA
15 (D) m 6 0/2 30 Yes 8/↓/- Yes Intellectual disability No MTS, superior vermian dysplasia JBTS
16 (D) m 22 1 (#17)/1 30 Yes 6/↓/- Yes Normal Yes MTS, vermian hypo-/dysplasia JBTS
17 (D) m 17 1 (#16)/1 42 Yes 3/↓/- Yes Low normal No MTS, superior vermian hypo-/dysplasia JBTS
18 (D) f 23 0/1 24 No 4/↓/- Yes Learning disability No Normal COMA
19 (D) f 6 0/1 + 1a 14 No 6/↓/- No Normal No Superior vermian dysplasia, otherwise normal COMA
20 (R/K) m 10 0/1 + 1a 48 Yes 5/↓/- Yes Intellectual disability No Enlarged ventricles, dysmorphic basal ganglia, hypoplastic corpus callosum, abnormal proportions of brain stem Brain malformation suspicious of tubulinopathy
21 (D) m 6 0/1 36 Yes 8/↓/- Yes Learning disability No MTS, callosal agenesis, vermian hypo-/dysplasia, hippocampal malrotation, dysplastic tectal plate JBTS
  1. Abbreviations: A Albanian origin, CH Swiss origin, D German origin, K Kazakh origin, R Russian origin, T Turkish origin, UK British origin, m male, f female, ↓ attenuating, ↔ unchanged, MTS molar tooth sign, JBTS Joubert syndrome, a half-siblings