Table 1
Clinical and radiological details of cases with preference to movement disorders.
| CASE | AGE AT ONSET (YEARS) | AGE AT DIAGNOSIS (YEARS) | FIRST SYMPTOM | CEREBELLAR ATAXIA | DYSTONIA | MYOCLONUS | COGNITIVE DISTURBANCE | BEHAVIORAL CHANGE | BRAIN IMAGING FINDINGS |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 4 | 6 | Regression of milestones | – | – | + | + | – | Fronto-temporal cerebral atrophy with PV- WMH |
| 2 | 25 | 27 | Cerebellar ataxia | + | + (finger dystonia) | – | – | – | Normal |
| 3 | 38 | 45 | Behavioral change | + | + (finger dystonia) | – | + | + | Diffuse cerebral and cerebellar atrophy |
| 4 | 20 | 24 | Behavioral change | + | + (finger dystonia) | – | + | + | Diffuse cerebral and cerebellar atrophy |
| 5 | 12 | 20 | Dystonia | – | + (Generalised) | – | + | – | Diffuse cerebral and cerebellar atrophy |
| 6 | 4 | 8 | Dystonia | – | + (Generalised) | – | + | – | Not available |
| 7 | 7 | 9 | Ataxia with slow eye movements | + | + (cervical) | – | + | – | Mild cerebral and cerebellar atrophy |
| 8 | 13 | 20 | Reduced cognition | + | – | – | + | – | Diffuse cerebral and cerebellar atrophy |
| 9 | 15 | 32 | Reduced cognition | – | – | – | + | – | Diffuse cerebral and cerebellar atrophy |
[i] +/– present/absent; PV-WMH- periventricular white mater hyperintensities.
Figure 1
Brain MRI of 2 patients with late-infantile onset NPC (A-F); (A–C) Fluid-attenuated inversion recovery (FLAIR) axial images showing periventricular hyperintense signals (red arrow); (D) axial T1-weighted image showing normal cerebellum (red arrow); (E, F) Axial T2-weighted image showing periventricular hyperintense signals and fronto-temporal atrophy (red arrow); (G) Axial T1-weighted image of juvenile-onset NPC showing right lateral frontal atrophy (red arrow).
Figure 2
Brain MRI of patients with adult-onset NPC; Patient no 2 (A) Sagittal T2-weighted image showing cerebellar atrophy (red arrow); Patient no 3 (B, C)- (B) Axial T1-weighted image showing frontal atrophy with prominent ex-vacuo dilation of lateral ventricles (red arrow); (C) Axial T2-weighted image showing bilateral temporal atrophy and cerebellar atrophy (red arrow); Patient no 4 (D-F); (D) Axial T2-weighted image showing cerebellar atrophy (red arrow); (E) Axial T1-weighted image showing cerebellar atrophy (red arrow); (F) Axial FLAIR image showing cortical atrophy (red arrow).
Figure 3
Bone marrow aspirate (A, B) showing sea blue histiocytes (red arrow).
Video 1
Adult-onset NPC. Video of patient-2 showing slow vertical saccades with round the houses sign, zig-zag trajectory of vertical saccades (segment 1) and outstretched hands finger dystonia (segment 2) (Consent taken for publication).
Video 2
Juvenile-onset NPC. Video of patient-5 showing generalized dystonia (segment 1) and vertical supranuclear gaze palsy (segment 2). There was no parkinsonism (Consent taken for publication).
Video 3
Late infantile onset NPC. Video of patient-6 showing vertical saccadic initiation failure with head thrust (segment 1) and upper and lower limb dystonia (segment 2) (Consent taken for publication).
Table 2
Summary of other studies on spectrum of movement disorders in NPC.
| STUDY | SEVIN ET AL, 2006 | ANHEIM ET AL, 2014 | KOENS ET AL, 2016 | CURRENT STUDY |
|---|---|---|---|---|
| Number of patients | 13 | 5 | 8 | 9 |
| Study country | France | France | Netherlands | India |
| Categorization based on age at onset | 13 adult-onset | 4 juvenile-onset 1 adult-onset | 5 juvenile-onset 3 adolescent/adult-onset | 2 late-infantile onset 4 juvenile-onset 3 adult-onset |
| Types of movement disorders (n) | Ataxia (11) Dystonia (7) Myoclonus (2) Chorea (1) Cataplexy (2) | Ataxia (5) Dystonia (3) Myoclonus (3) Chorea (1) | Myoclonus (5) Dystonia (5) Ataxia (3) | Dystonia (6) Ataxia (5) Myoclonus (1) |
| Movement disorder as first symptom (n) | Ataxia (2) Dystonia (3) | Ataxia (3) Myoclonus (1) | Ataxia (4) Myoclonus (3) Dystonia (1) | Ataxia (2) Dystonia (2) |
[i] n-number of patients, NPC-Niemann-Pick Type C.