Spatial Discrimination Threshold Abnormalities are not Detected in a Pilot Study of DYT6 Dystonia Mutation Carriers

Andres F. Deik; Sean O’Riordan; Marta San Luciano; Vicki L. Shanker; Deborah Raymond; Susan B. Bressman; Rachel Saunders-Pullman

doi:10.5334/tohm.92

Figures & Tables

Table 1.

Subject Demographics

Group	n	Median Age (years)	Gender (F/M)	Handedness (R/L)	Genotype	Median Onset Age (years)	Median Disease Duration (years)
*DYT1* C	15	43.2	(10/5)	(14/1)
DYT1 MC	7	39.2	(4/3)	(6/1)	c.904_906delGAG	8.5	23.2
DYT1 NMC	8	48.6	(6/2)	(8/0)	c.904_906delGAG
*DYT6* C	17	41.8	(11/6)	(13/4)
DYT6 MC	8	21.7	(5/3)	(6/2)	indel1 (n = 6)c.65T→C (n = 1)c.61T>A (n = 1)	11.5	14.2
DYT6 NMC	9	47.4	(6/3)	(7/2)	indel (n = 7)c.65T→C (n = 2)
Controls	34	33.1	(16/18)	(34/0)

Abbreviations: C, carriers; MC, manifesting carriers; NMC, non-manifesting carriers.

1 Amish-Mennonite Founder Insertion deletion (indel) mutation c.134_135insGGGTT; 137_139delAAC

Table 2.

Clinical Characteristics of DYT1 and DYT6 Manifesting Carriers

Subject1	Age at Domes (years)	Age at Onset (years)	Symptom Duration	Distribution of Dystonia2	Genotype	BntxA
*DYT1*
1	43.2	8.0	35.2	TAMRG	*	Yes
2	39.2	10.0	29.2	AMRG	*	No
3	39.6	9.0	30.6	AMKRG	*	No
4	23.1	7.0	16.1	AMG	*	Yes
5	23.3	6.0	17.3	UFLNAMKRG	*	Yes
6	19.0	13.0	6.0	ARG	*	Yes
7	53.5	12.0	41.5	A	*	No
*DYT6*
8	19.0	8.0	11.0	TNAMR	indel3	Yes
9	19.4	16.0	3.4	L	indel	No
10	50.5	21.0	29.5	FJTNA	indel	No
11	24.0	3.0	21.0	LNAMRG	indel	No
12	17.7	2.0	15.7	FJTAMKRG	indel	No
13	45.7	12.0	33.7	FJTNAMKRG	c.65T→C	No
14	41.7	29.0	12.7	NA	c.61T>A	No
15	18.8	11.0	7.8	FTAMKR	indel	No

Abbreviations: A, right arm; BntxA, botulinum toxin type A; F, lower face; G, left leg; J, jaw; K, trunk; L, larynx; M, left arm; N, neck; R, right leg; T, tongue; U, upper face.

1 All were right-hand dominant except subjects 7, 11, and 15.

2 Sites affected at time of Johnson–Van Boven–Philips testing.

3 Amish-Mennonite Founder Insertion deletion (indel) mutation c.134_135insGGGTT; 137_139delAAC

{ label (or @symbol) needed for fn[@id='nt107'] } <?ENTCHAR ast?>: All DYT1 mutation carriers harbored c.904_906delGAG.

Table 3.

Tertile Distribution of Sensory Discrimination Thresholds (SDTs) for Controls and DYT6 C Manifesting carriers (MC) and non-manifesting carriers (NMC)

Tertile	Tertile Limits for Subjects 45 and Younger	Tertile Limits for Subjects 46 and Older1	Controls in Tertile (n, %)	DYT1 C in Tertile (n, %)	DYT1 MC in Tertile (n, %)	DYT1 NMC in Tertile (n, %)	DYT6 C in Tertile (n, %)	DYT6 MC in Tertile (n,%)	DYT6 NMC in Tertile (n, %)
1st	1.09–1.64	1.95–2.44	12 (35.3)	7 (46.7)	2 (28.6)	5 (62.5)	8 (47.1)	4 (50)	4 (44.4)
2nd	1.73–2.33	3.39–3.48	9 (26.5)	3 (20)	3 (42.9)	0 (0)	4 (23.5)	3 (37.5)	1 (11.1)
3rd	2.38–2.87	3.82–3.84	13 (38.2)	5 (33.3)	2 (28.6)	3 (37.5)	5 (29.4)	1 (12.5)	4 (44.4)
Totals			34 (100)	15 (100)	7 (100)	8 (100)	17 (100)	8 (100)	9 (100)

Abbreviations: MC, manifesting carriers; NMC, non-manifesting carriers.

1 Based on control SDTs.