Table 2.
Neurological and Neuroimaging findings in FD+PD+ patients and their FD+PD–relatives
| Mainz score | Neurologic score | Brain MRI/CT | |||||||||||||||||||
| Total | Tinnitus | Vertigo | Acroparesthesias | Fever pain crisis | Cerebrovascular Involvement | Psychiatric/psychosocial | WML | ischaemic lesions Small Vessel | ischaemic lesions Large Vessels | Haemorrhagic Lesions | WML Location | Ischaemic lesions Location Large Vessels | Location Haemorrhagic Lesions | Atrophy (ACG Scale) | |||||||
| Total | (in MRI/CT) Ischaemic Lesions | TIA/migraine | Stroke | Depression | Fatigue | level Reduced activity | |||||||||||||||
| P1 (Female) | 35 | 9 | 0 | 1 | 3 | 0 | 5 | Yes | No | Yes | 0 | 0 | 0 | Yes | Yes | Yes | Yes | Both | Basal ganglia, | Basal ganglia, | 1 |
| hemispheres | Brain stem | temporal lobe | |||||||||||||||||||
| P2 (Male) | 22 | 5 | 1 | 0 | 3 | 0 | 1 | Yes | No | No | 0 | 0 | 0 | Yes | Yes | – | – | Periventricular | |||
| and cortico-subcortical | – | 2 | |||||||||||||||||||
| fronto-parietal | |||||||||||||||||||||
| P3 (Male) | 22 | 2 | 1 | 0 | 0 | 0 | 1 | Yes | No | No | 0 | 0 | 0 | Yes | Yes | – | Yes | Subcortical in | – | Subcortical | 0 |
| both hemispheres | Frontal | ||||||||||||||||||||
| (frontal-parietal) | |||||||||||||||||||||
| periventricular | |||||||||||||||||||||
| Female FD+/PD– | 6,0/10,0 | 3,0/3,0 | 5/10 | 3/12 | 5/10 | 0/15 | 0,0/1,0 | 6/9 | 1/14 | 1/14 | 5/10 | 5/10 | 0/15 | 6/7 | 2/11 | 0/13 | 1/12 | Subcortical | Basal | Subcortical | 0–12/1 |
| cohort1 | Frontal (2/11) | ganglia (1/12) | Frontal (1/12) | 0–12/1 | |||||||||||||||||
| (median/IQR) | Subcortical | Pons (1/12) | 1-0/13 | ||||||||||||||||||
| (N = 15) | Fronto-Parietal (1/12) | ||||||||||||||||||||
| Subcortical | 2-1/12 | ||||||||||||||||||||
| temporal (1/12) | |||||||||||||||||||||
| Periventricular | |||||||||||||||||||||
| (5/8) | |||||||||||||||||||||
| Diffuse | |||||||||||||||||||||
| subcortical (2/11) | |||||||||||||||||||||
| Corona | |||||||||||||||||||||
| radiata(1/12) | |||||||||||||||||||||
| Centrum | |||||||||||||||||||||
| semiovale (1/12) | |||||||||||||||||||||
| Male FD+/PD– | 6,0/12,0 | 1,5/1,5 | 3/3 | 0/6 | 1/5 | 0/6 | 0,5/1,0 | 3/3 | 0/6 | 0/6 | 0/6 | 0/6 | 0/6 | 3/2 | 1/4 | 0/6 | 0/6 | Subcortical | Nucleocapsular | – | 0–4/1 |
| cohort2 | 6,0/12,0 | 1,5/1,5 | 3/3 | 0/6 | 1/5 | 0/6 | 0,5/1,0 | 3/3 | 0/6 | 0/6 | 0/6 | 0/6 | 0/6 | 3/2 | 1/4 | 0/6 | 0/6 | Frontal (3/2) | (1/4) | ||
| (median/IQR) | Subcortical | 1-0/5 | |||||||||||||||||||
| (N = 6) | Parietal (1/4) | 2-1/4 | |||||||||||||||||||
Data is presented individually for each of the three patients (P1–P3) with Parkinson’s disease (PD) and Fabry disease (FD) and collectively (median/ interquartile range (IQR)) for continuous variables and number of patients Yes/No for categorical variables) for their relatives with FD in the three pedigrees stratified by gender; 1-two females without MRI; 2-one male without MRI; ACGS, Global cortical atrophy scale; CT, computerized tomography; MRI, magnetic resonance imaging; WML, white matter lesions.