A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

Table 3 Comparison of clinical features in alternating hemiplegia of childhood (AHC), rapid-onset dystonia-parkinsonism (DYT12) and CAPOS syndrome (adapted and modified from Rosewich et al.[22])

	Alternating hemiplegia of childhood	Rapid-onset dystonia-parkinsonism	CAPOS syndrome
Usual age of onset	0 – 18 m	4 – 55 yr	6 m – 5 yr
Onset trigger
Emotional stress	?^a	+	?^a
Exercise	?^a	+	?^a
Hypo/Hyperthermia	+	+	+^b
Bathing	+	Not reported	-
Alcohol	?^a	+	?^a
Neurological symptoms
Ataxic encephalopathy episodes	-	-	+
Hemiplegic episodes	+	-	-
Quadriplegic or paretic episodes	+	-	+
Dystonia	+	+	−/+
Dysarthria	+	+	−/+
Drooling	+	+	−/+
Reduced facial expression	−/+	+	-
Mutism	−/+	+	-
Rostrocaudal gradient	+	+	-
Ataxic gait	−/+	+	+
Bradykinesia	−/+	+	-
Seizures	−/+	−/+	−/+
Choreoathetosis	+	-	-
Abnormal eye movements during episodes	+	−/+	−/+
Areflexia	-	-	+
Pes cavus	-	-	−/+
Optic atrophy/visual loss	-	-	+
Sensorineural hearing loss	-	-	+
Developmental delay or intellectual disability	+	−/+	−/+
Clinical course
Abrupt onset	+	+	+
Polyphasic with slow progression of non-paroxysmal symptoms	+	-	−/+
Mono- or biphasic with slow progression of neurological symptoms	-	+	−/+

Abbreviations used: m, months; yr, years; +, feature usually occurs; +/−, feature may occur; -, feature not described.
^aCannot assess in infancy or early childhood.
^bHyperthermia only.

ISSN: 1750-1172