Sex |
F |
F |
M |
M |
M |
F |
M |
M |
M |
M |
Onset age (yr) |
9 |
1 |
2 |
2 |
2 |
11 |
15 |
21 |
25 |
45 |
DBS age (yr) |
10 |
7 |
9 |
10 |
13 |
18 |
16 |
26 |
54 |
47 |
PKAN type |
Classic |
Classic |
Classic |
Classic |
Classic |
Unknown |
Atypical |
Atypical |
Atypical |
Atypical |
Family history |
None |
Sister of C |
Brother of B |
Younger brother with PANK2 mut |
Younger brother died of HSD |
None |
Younger brother with PANK2 mut |
None |
Unclear |
None |
Clinical course (age, yr) |
Falling → generalized dystonia, bedridden (10) |
Dev delay → tiptoeing (5) → generalized dystonia, bedridden (6) |
Dev delay → tiptoeing (6) → generalized dystonia (8) |
MR → tiptoeing (8) → generalized dystonia (10) |
Language delay, falling → generalized dystonia (9) |
Rt. hand dystonia → craniocervical & limbs dystonia over years |
Rt. hand dystonia → generalized dystonia (16) |
Rt. arm dystonia |
Writer’s cramp → propagation to all limbs over 20 years |
Rt. arm dystonic tremor, jaw dystonia, slowly progressive |
Mild dystonia in both legs |
Limb/Truncal dystonia |
+/+ |
+/+ |
+/+ |
+/+ |
+/+ |
+/- |
+/+ |
+/- |
+/+ |
+/- |
Dysphagia |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
- |
+ |
- |
Cognitive impairment |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
- |
- |
- |
Other findings |
Respiratory failure, retinopathy |
Severe retrocollis |
Scoliosis |
Status dystonicus |
Choreoathetosis |
Severe dystonic posturing |
Impulse control disorder |
Rt. arm myoclonus, tremor |
Weakness, both legs |
Both hands tremor |
Medical treatments |
TBZ, DZP |
THX, DZP |
THX, DZP |
MDZ civ, DZP, QTP, THX, HPD |
DZP, THX, ZNS, BCF, CNZ, HPD |
CNZ, THX |
THX, CNZ, BCF |
DZP, THX, BCF |
ALP, BCF, CNZ, THX, Levodopa |
CNZ, THX, ECT |
DBS date |
Sep 2010 |
Jul 2015 |
Sep 2015 |
Oct 2012 |
Dec 2007 |
Jan 2015 |
Jul 2009 |
Nov 2011 |
May 2009 |
Feb 2019 |
Length of follow-up |
|
|
|
|
|
|
|
|
|
|
BFMDRS (mo) |
120 |
60 |
60 |
45 |
12 |
6 |
84 |
72 |
24 |
24 |
Clinical follow-up (mo) |
128 (FU+) |
71 (FU+) |
69 (FU+) |
56 (FU lost) |
27 (Expired) |
75 (FU+) |
100 (FU lost) |
78 (FU lost) |
62 (FU lost) |
24 (FU+) |
Last status |
Bedridden |
Assisted gait |
Wheelchair ambulation |
Assisted gait |
Expired |
Assisted gait |
Assisted gait |
Independent |
Assisted gait |
Independent |
Major clinical events and surgery-related adverse events (mo) |
Status dystonicus (1 mo) |
Wound dehiscence and infection (1 mo) |
Brain abscess s/p Lt. electrode removal (5 mo) |
Recurrent wound dehiscence and MRSA infection s/p wound revision, s/p DBS removal (19 mo) |
Pneumonia (23 mo) followed by sepsis and status |
Hospitalized due to painful dystonia (62 mo) |
Blepharospasm (4 day, reversed) |
None |
Aggravation of dystonia (40 mo) |
None |
Respiratory failure (22 mo) |
s/p wound revision, Rt. hip subluxation s/p operation (34 mo) |
Recurrent seizure with polyspike-andwaves, both frontotemporal (43 mo) |
s/p GKS, both GPi (20 mo) |
Dystonicus (27 mo) |
Improved after battery change |
Jaw opening dystonia and falling (54 mo) |
Improved after battery change, hospitalized due to limb tremor aggravation (62 mo) |
Improved after battery change |
Stimulation parameters (Rt.)*
|
4.3 V, 120 μs/60 Hz |
3.0 V, 60 μs/130 Hz |
3.3 V, 60 μs/90 Hz |
- |
2.6 V, 120 μs/185 Hz |
4.1 V, 60 μs/130 Hz |
3.5 V, 60 μs/130 Hz |
3.2 V, 90 μs/130 Hz |
2.6 V, 90 μs/130 Hz |
2.0 V, 60 μs/130 Hz |
Stimulation parameters (Lt.)*
|
4.5 V, 120 μs/60 Hz |
3.5 V, 60 μs/130 Hz |
- |
- |
2.8 V, 120 μs/185 Hz |
4.2 V, 60 μs/130 Hz |
3.5 V, 60 μs/130 Hz |
3.2 V, 90 μs/130 Hz |
3.6 V, 120 μs/130 Hz |
2.1 V, 60 μs/130 Hz |