Table 1.

Confirmed familial and simplex cases of ADCY5-related dyskinesia listed by reference and mutation

Study	New cases	No. cases genotyped (affected)	ADCY5 mutation	Age of onset	Reported involvement (features present in one or more affected individuals within a series)
					Chorea	Dystonia	Myoclonus	Axial hypotonia	Dysarthria	Face	Head/neck	Gait	Dev. delay	Other features
Chen et al. [1]	1 Family	10 (19)	c.2176G>A p. A726T	2.5–19 years	+	+				+				Dilated cardiomyopathy
Chen et al. [2]	2 Sporadic (1 Mosaic)	2	c.1252C>T p. R418W	19 months to 5 years	+	+	+	+	+	+	+	+	+	Resting tremor Disturbed sleep Camptocormia
Carapito et al. [3]	1 Family	2	c.2088 + 1G>A	6 months to 4 years	+	+				+	+	+		Right leg muscular atrophy Hypotonia (unspecified)
Mencacci et al. [4]	1 Family (1 Mosaic) 1 Sporadic	3	c.1252C>T p. R418W	1–2 years	+	+			+	+		+	+	Ocular impersistence Abnormal saccades Impaired tandem walk
Chen et al. [5]	1 Family (1 Mosaic) 8 Sporadic (3 Mosaic)	16	c.1252C>T p. R418W	6 months to <20 years	+	+	+	+	+	+	+	+	+	Reduced IQ Psychosis
	3 Sporadic (1 Mosaic)	3	c.1253G>A p. R418Q	0.2–1.5 years	+	+	+	+	+	+				Mildly reduced cognition
	1 Sporadic	1	p. R438Pa	2 years		+								Tremulous dystonia
	1 Sporadic	1	p. L720Pa	0.2 years		+	+	+	+
	1 Family (1 Mosaic)	6 (12)	c.2176G>A p. A726T	1–5 years						+				Essential hereditary chorea family
	1 Family (1 Mosaic)	4	c.3086 T>A p. M1029 K	6 months to 2 years	+	+		+	+	+	+	+	+	Contractures Psychotic depression Reduced MMSE
Chang et al. [12]	2 Families 2 Sporadic	6	c.1252C>T p. R418W	6–14 months	+	+		+	+	+	+	+	+	No unaided walking Abnormal saccades Lower limb spasticity Disturbed sleep Intellectual disability
	1 Family	3	c.1252C>G p. R418G	6 months	+	+	+	+	+	+	+	+		Disturbed sleep Aggression
	1 Sporadic	1	c.1253G>A p. R418Q	6 months	+				+	+	+	+		Disturbed sleep
Dy et al. [13]	1 Sporadic	1	c.2080_2088del p. K694_M696del	5 months	+			+	N/A	+	+	+	+	Significant cognitive delay Severe insomnia Gastrostomy Nonverbal Nonambulatory
	1 Sporadic	1	c.1252G>T p. R418W	1 year	+	+	+	+	+	+	+	+	+	Disturbed sleep Strained/strangled voice
Zech et al. [15]	1 Family	2	c.2180G>A p. R727K	29 years		+					+			Head tremor
	1 Sporadic	1	c.1378A>T p. I460F	4 years		+	+	+	+	+	+	+	+	Restless arms
	1 Sporadic	1	c.1196C>T p. P399L	50 years		+				+	+
	1 Sporadic	1	c.1400A>G p. N467S	26 years		+					+
	1 Sporadic	1	c.3177_3182delTGA p. D1060del	58 years		+					+
	1 Sporadic	1	c.3625A>G p. M1209 V	53 years		+					+
Meijer et al. [14]	1 Sporadic	1	p. R418W	<1 year	+	+	+	+	+		+	+	+	Impaired vertical eye movements Disturbed sleep
Westen-berger et al. [16]	1 Sporadic	1	c.3045C>A p. D1015E	<2 years	+	+			+	+			+	Alternating hemiplegia of childhood ADHD Hypotonia (unspecified)
	1 Sporadic	1	c.3074A>T p. E1025V	3 months	+	+			+	+			+	Alternating hemiplegia of childhood ADHD Hypotonia (unspecified)
Current paper	1 FAMILY	4 (5)	c.3086 T>G p. M1029R	2–5 years	+	+	+		+	+	+	+		SEE BELOW
	IV:1		c.3086 T>G p. M1029R	2 year	+	+	+		+	+		+		Jerky eye movements
	III:4		c.3086 T>G p. M1029R	2 year	+	+					+			Impaired tandem walk
	II:2		c.3086 T>G p. M1029R	<5 year		+	+		+	+	+	+		Broad-based gait Interrupted gaze pursuit Depression
	IV:2		c.3086 T>G p. M1029R	4 year					+	+		+

To the best of our knowledge, based on what is stated in each report, these all represent separate cases. Note that only reports documenting ADCY5 mutations are listed here and where individual cases are mentioned in more than one report, they are listed here only under the original report to document their ADCY5 mutation. The details of the family from the current report are given in bold type at the bottom, both as a family group and as individual cases. Phenotypes relate to those reported in any affected members of a given family

+ feature reported, dev. Delay developmental delay (including motor delay), IQ intelligence quotient, MMSE mini-mental state examination, N/A not applicable, ADHD attention deficit hyperactivity disorder

^aThese variants were listed as being of uncertain significance in Chen et al. [5], although being bioinformatically predicted to be pathogenic