Table 1.

Clinical features of the XDP gait disorder cases

	Demographics and Diagnosis							Dystonia Features											Parkinsonism Features
Case	Sex, dx	Age Assess, yr	Age Onset, yr	Phenotype	TAF‐1 SVA Repeat Length	Dystonia	BFM	Cerv	OM	Speech	Larynx	Bleph	Trunk	UE	LE	Gait	Park	UPDRS	Hypomim	Hypoph	Bradyk	Trem	Gait	Freezing	Post inst
1	M, XDP	42	39	DP	42	Y	10		+				+			++	Y	27	++	+	++		++
2	M, XDP	40	37	DP	43	Y	20.5	+++		+++	+++					++	Y	38	+	+	+++		++
3	M, XDP	53	47	DP	47	Y	43.5	+	+++	+			+	++	++	+++	Y	46	++	+	++	+	+++		+++
4	M, XDP	54	51	DP	39	Y	15	+++	++	+++			+			+	Y	39	+	++	++		++

Severity is designated by + denoting mild, ++ moderate, and +++ severe. Details regarding the TAF‐1 SVA hexameric expansion are also shown.

dx, diagnosis; Age assess, age at assessment; Age onset, age at onset of symptoms; M, male; F, female; y, years; XDP, X‐linked dystonia parkinsonism; DP, dystonia parkinsonism; SVA, sine‐VNTR‐Alu—short interspersed nuclear element, variable number of tandem repeats, and Alu composite; Y, yes; N, no; BFM: Burke‐Fahn‐Marsden Dystonia Rating Scale score; Cerv, cervical dystonia; OM, oromandibular dystonia; Bleph, blepharospasm; UE, upper‐extremity dystonia; LE, lower‐extremity dystonia; Parkin, parkinsonism; UPDRS, MDS‐UPDRS Part 3 motor score; Hypomim, hypomimia; Hypoph, hypophonia; Bradyk, bradykinesia; Trem, presence of resting tremor; Post Inst, postural instability.