| Case 1 | Case 2 | Case 3 | Case 4 | Case 5 |
---|---|---|---|---|---|
Gender | male | male | female | male | female |
Age (years) | 29 | 27 | 54 | 49 | 48 |
Age at diagnosis (year old) | 24 | 23 | 37 | 32 | 31 |
Clinical features | Â | Â | Â | Â | Â |
   Cataract | + | + | + | + | + |
   Mental Retard | mild to moderate | mild | moderate | moderate | moderate |
   Psychiatric diagnosis | Anxiety | none | none | none | Dysthymia |
   Epilepsy | + | - | - | - | - |
   Achilles tendon xanthoma | + | + | + | + | + |
   Ataxia | + | + | + | + | + |
MRI follow up numbers (times) | 3 | 3 | 6 | 6 | 6 |
Image features at diagnosis and follow up | Â | Â | Â | Â | Â |
Dilation of 4th ventricle at diagnosis | + | + | + | + | + |
Peri-dentate WM change | + | + | + | + | + |
Peri-ventricular WM | + | + | + | + | + |
hyper-intensity | Â | Â | Â | Â | Â |
Cerebellar WM changes | + | + | + | + | + |
WAIS-R at diagnosis | 64/49/55 | 71/65/67 | 55/54/49 | 50/50/45 | 50/50/45 |
(VIQ/PIQ/FIQ) | Â | Â | Â | Â | Â |
WAIS-R (VIQ/PIQ/FIQ) | 64/49/55 | 71/65/67 | 62/57/55 | 54/57/49 | 54/57/49 |
Mini-mental state examination | 24 | 23 | 7 | 6 | 7 |
Clinical dementia rating | 0.5 | 0.5 | 2 | 2 | 2 |
CASI (100) | 75.7* | 73.8 * | 19* | 24.2* | 25.7* |
   Mental manipulation (10) | 2 | 7 | 0 | 1 | 2 |
   Attention (8) | 8 | 6 | 5 | 5 | 5 |
   Orientation (18) | 18 | 16 | 4 | 4 | 4 |
   Long term Memory (10) | 4 | 4 | 0 | 0 | 0 |
   Short term Memory (12) | 12 | 9.8 | 1.5 | 2.7 | 3.7 |
   Abstract thinking (12) | 10 | 9 | 2 | 5 | 6 |
   Drawing (10) | 6 | 8 | 5 | 5 | 4 |
   Verbal fluency (10) | 6 | 6 | 1 | 1 | 1 |
   Language (10) | 9.7 | 8 | 0.5 | 0.5 | 0 |