Table 1 CNS involvement: clinical features of the 43 patients with Anderson–Fabry disease
Male patients (n = 25)Female patients (n = 18)
Number of patients (%)Number of patients (%)
Demographic characteristics
    Age (mean ± SD)41.94±10.83 years52.48±17.50 years
    Range of age21–62 years19–74 years
Most common CNS manifestations
A) Total no. of patients with cerebrovascular events6 (20%)5 (28%)
    TIA5 (20%)3 (17%)
    Stroke6 (24%)5 (28%)
    Age at onset (mean ± SD)33.64±13.65 yrs53.68±11.71 yrs
    Recurrence6 (24%)4 (22%)
    First episode during ERT0 (0%)0 (0%)
B) Total number of patients with minor neurological manifestations15 (60%)12 (67%)
    Diplopia5 (20%)3 (17%)
    Migraine/recurrent headache5 (20%)5 (28%)
    Vertigo8 (32%)2 (11%)
    Hearing loss9 (36%)6 (33%)
    Reported cognitive problems3 (12%)4 (22%)
Total percentage of patients with any kind of clinical CNS manifestation16 (64%)13 (72%)
Total percentage of patients without any kind of clinical CNS manifestation9 (36%)5 (28%)
Clinical outcome
Rankin scale ⩾29 (36%)4 (22%)
EuroQol ⩾34 (16%)4 (22%)
  • CNS, central nervous system; ERT, enzyme replacement therapy; manifest., manifestations; No., number; SD, standard deviation; TIA, transitory ischaemic attack.