Table 1
Demographics and spectrum of movement disorders of patients with NWD.
| NWD PATIENTS (N = 69) | |
|---|---|
| Age at presentation (mean ± SD) years | 16.3 ± 7.1 |
| Age at onset (mean ± SD) years | 13.6 ± 6.6 |
| Duration of illness (mean ± SD) (range) years | 2.02 ± 2.54 (1–14) |
| Gender (Male: Female) | 2:1 |
| NWD without symptomatic liver disease* | 50 (72.5) |
| NWD with symptomatic liver disease* | 19 (27.5) |
| KF ring (%) | 69 (100) |
| Movement disorder as first neurological symptoms* | 55 (79.7) |
| Tremor | 24 (43.6) |
| Dystonia | 23 (41.8) |
| Parkinsonism | 6 (10.9) |
| Chorea | 1 (1.8) |
| Cerebellar ataxia | 1 (1.8) |
| Overall movement disorders* | 69 (100) |
| Dystonia | 53 (76.8) |
| Parkinsonism | 36 (52.1) |
| Tremors | 33 (47.8) |
| Chorea | 07 (10.1) |
| Cerebellar ataxia | 01 (1.4) |
| Myoclonus | 01 (1.4) |
| Combination of movement disorders (n)* | 40 (57.9) |
| Dystonia-parkinsonism | 16 (40) |
| Tremor-dystonia-parkinsonism | 12 (30) |
| Tremor-dystonia | 6 (15) |
| Chorea-dystonia | 5 (12.5) |
| Chorea-dystonia-parkinsonism | 1 (2.5) |
[i] *Values are expressed as number (percentage); SD-standard deviation.
KF ring: Kayser-Fleischer ring; NWD: Neurological Wilson disease; SD: Standard deviation.
Figure 1
Brain MRI axial T2-weighted images showing hyperintense lesions in (A) bilateral caudate (blue arrow), putamen (green arrow), thalamus (white arrow) and splenium of corpus callosum (red arrow); (B) and (C) midbrain tegmentum (green arrow); (D) ‘Bright claustrum’ sign (green arrow), hypointense lesions in bilateral globus pallidum (red arrow); (E) central T2-hypointense lesion surrounded by hyperintensity in bilateral putamen (green arrow); (F) ‘Face of giant panda’ sign in midbrain (green arrow). MRI: Magnetic resonance imaging.
Figure 2
Brain MRI axial T2-weighted images showing hyperintense lesions in (A) pontine tegmentum with hypointense central tegmental tract suggesting ‘face of panda cub’ sign (green arrow); (B) basis pontis suggesting ‘Trident’ sign (green arrow); (C) and (D) ‘Bright claustrum’ sign on axial (red arrow) and coronal (green arrow) image; (E) bilateral caudate and putamen with sparing of globus pallidus (green arrow); (F) Axial fluid-attenuated inversion recovery image showing hyperintense lesion in globus pallidus (red arrow) apart from bilateral caudate, putamen and thalamus.
Table 2
Frequency of MRI lesions in WD patients with dystonia, tremor and parkinsonism.
| BRAIN REGION INVOLVED# | DYSTONIA (n = 53) | WITHOUT DYSTONIA (n = 16) |
|---|---|---|
| Caudate | 41 (77.3) | 10 (62.5) |
| Putamen | 52 (98.1) | 14 (87.5) |
| Thalamus | 35 (66.3) | 8 (50) |
| Midbrain | 33 (62.2) | 8 (50) |
| Pons | 25 (47.4) | 7 (43.7) |
| Internal capsule | 27 (51.1) | 6 (37.5) |
| TREMORS (n = 33) | WITHOUT TREMORS (n = 36) | |
| Caudate | 19 (57.5) | 31 (86.1) |
| Putamen | 28 (84.8) | 36 (100) |
| Thalamus | 22 (66.7) | 20 (55.6) |
| Midbrain | 19 (57.5) | 20 (55.6) |
| Pons | 13 (39.3) | 17 (47.2) |
| Internal capsule | 9 (27.2) | 22 (61.1) |
| PARKINSONISM (n = 36) | WITHOUT PARKINSONISM (n = 33) | |
| Caudate | 27 (75.0) | 24 (73.1) |
| Putamen | 27 (75.0) | 33 (100) |
| Thalamus | 17 (47.2) | 23 (69.8) |
| Midbrain | 20 (55.5) | 18 (54.5) |
| Pons | 17 (47.2) | 15 (45.4) |
| Internal capsule | 18 (50.0) | 17 (51.5) |
[i] Values are expressed as number (percentage).
The most common region involved in each phenotypic subgroup is marked in bold.
# MRI lesions were T1 iso to hypointense and T2 hyperintense lesions suggestive of edema/necrosis/gliosis/demyelination. MRI: Magnetic resonance imaging; WD: Wilson’s disease.
Figure 3
Bar diagram depicting the modified Rankin scale (mRS) outcome of neurological Wilson’s disease before and after treatment. NWD: Neurological Wilson’s disease.
Video 1
Video of Case-1 showing tremor in both upper and lower limbs (rest, posture with wing-beating quality) along with dystonic posturing of fingers of both hands.
Video 2
Video of Case-2 showing dystonia of both upper and lower limbs with tremors, trombone tongue.
Video 3
Video of Case-3 showing dystonia of both upper and lower limbs, trunk and cranial dystonia with foot contractures.
Video 4
Video of Case-4 showing choreiform movement of upper limbs, trunk and lower limbs with cervical, trunk and toe dystonia.
Video 5
Video of Case-5 showing generalised chorea with motor stereotypy of right upper limb and facial dystonia in the form of ‘vacuous smile’.
Figure 4
Bar diagram depicting summaries of studies on spectrum of movement disorders in neurological Wilson’s disease.
Table 3
Summaries of studies on spectrum of movement disorders in NWD.
| AUTHOR (YEAR) | STUDY SAMPLE SIZE | STUDY REGION | MOVEMENT DISORDERS SPECTRUM |
|---|---|---|---|
| Starosta-Rubinstein et al (1987) | 31 | USA | Dystonia (65%) Dysdiadochokinesia (58%) Rigidity (52%) Tremor (32%) |
| Walshe et al (1992) | 136 | UK | Parkinsonism -45 (33%) Dystonia- 15 (11%) Chorea- 11 (8%) |
| Svetel et al (2001) | 27 | Yugoslavia | Dystonia- 10 (37%) |
| Machado et al (2006) | 119 | Brazil | Dystonia (69%) Parkinsonism (60%) Postural tremors (55%) Ataxia (28%) Chorea and Athetosis (16%) |
| Taly et al (2007) | 282 | India | Parkinsonism (62.3%) Dystonia (62.3%) Ataxia (28%) Chorea (9%) Myoclonus (3%) & Athetosis (2%) |
| Kalita et al (2021) | 82 | India | Dystonia – 69 (84.1%) Chorea- 31 (37.8%) Tremor- 24 (29.3%) Parkinsonism-19 (23.2%) Athetosis-13 (15.9%) Myoclonus-9 (11.0%) |
| Samanci et al (2021) | 53 | Turkey | Dystonia- 30% Tremor -28% Parkinsonism – 9% |
| Present study | 69 | India | Dystonia (76.8%) Parkinsonism (52.1%) Tremors (47.8%) Chorea (10.1%) Myoclonus (1.4%) Ataxia (1.4%) Combination of movement disorders Dystonia-parkinsonism (23.1%) Tremor-dystonia-parkinsonism (17.4%) Tremor-dystonia (8.7%) Chorea-dystonia (7.2%) |
[i] NWD: Neurological Wilson’s disease; UK: United Kingdon; USA: United States of America.
Table 4
Summary of studies on the frequency of brain MRI lesions.
| AUTHOR (YEAR) | STUDY SAMPLE SIZE | STUDY REGION | BRAIN MRI LESIONS (%) |
|---|---|---|---|
| Starosta-Rubinstein et al (1987) | 31 | USA | Caudate (46%), putamen (41%), midbrain (27%), Thalamus (9%), subcortical white mater (23%), pons (23%), Cerebellum (14%), Globus pallidus (5%) |
| Svetel et al (2001) | 27 | Yugoslavia | Globus pallidus (48.1%), putamen (44.4%), Claustrum (29.6%), caudate (14.8%), thalamus (18.5%), cerebellum (18.5%), midbrain (14.8%), pons (14.8%) |
| Sinha et al (2006) | 93 | India | Putamen (72%), caudate (61%), thalamus (58%), midbrain (49%), pons (20%), cerebral white matter (25%), cortex (9%), medulla (12%) and cerebellum (10%) |
| Taly et al (2007) | 282 MRI (n = 40) | India | Putamen (77.5%), caudate (62.5%), thalamus (60%), globus pallidus (37.5%), midbrain (52.5%), and cerebellum (7.5%) |
| Kalita et al (2021) | 82 | India | Thalamus (76.8%), globus pallidus (71.9%), Putamen (69.5%), caudate (68.2%), Brainstem (60.9%), cortex (30.5%), cerebellum (14.6%). |
| Present study | 69 | India | Putamen (95.6%), caudate (73.9%), thalamus (60.8%), midbrain (59.4%), internal capsule (49.2%), pons (46.3%), cortex (8.7%), globus pallidus (7.2%) and cerebellum (2.9%) |
[i] MRI: Magnetic resonance imaging; USA: United States of America.