Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study.
BACKGROUND
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A. Central nervous system (CNS) manifestations consist mainly of cerebrovascular events. Brain MRI results are often abnormal.


OBJECTIVE
The aim of the study was to describe CNS involvement in a group of Italian patients with AFD.


METHODS
Clinical and brain MRI data of 43 patients with AFD (25 men, 41.94+/-10.83 years old and 18 women, 52.48+/-17.50 years old) were analysed retrospectively. 17 male patients and 7 female patients were under treatment with enzyme replacement therapy (ERT).


RESULTS
All 43 patients had signs or symptoms of AFD. 16 men (64%) and 13 women (72%) demonstrated CNS involvement, although with varying severity. Overall, 6 men and 5 women had suffered from cerebrovascular accidents with an age at onset of 33.64+/-13.65 years and 53.68+/-11.71 years, respectively. Brain MR images were abnormal in 16/25 men and in 13/16 women. During CNS monitoring, some patients receiving ERT (5/17 men and 2/6 women) demonstrated neurological deterioration, especially those who had presented with cerebrovascular disease already before starting ERT.


CONCLUSIONS
The study demonstrated a high frequency of CNS involvement in homozygous and heterozygous AFD patients, often characterised by early age at onset and abnormal brain MRIs. At present, ERT is widely used; however, potential beneficent effects may be disguised by the progression of irreversible pathology in short-term follow-up. Therefore, primary and secondary prophylaxes of cerebrovascular disease are extremely important.
Buechner
S
S
Department of Neurology, General Hospital of Bozen, Bozen, Italy. susanne.buechner@asbz.it
Moretti
M
M
Burlina
A P
AP
Cei
G
G
Manara
R
R
Ricci
R
R
Mignani
R
R
Parini
R
R
Di Vito
R
R
Giordano
G P
GP
Simonelli
P
P
Siciliano
G
G
Borsini
W
W
D000328:Adult; D017668:Age of Onset; D001921:Brain / Q000473:pathology*; D002490:Central Nervous System / Q000473:pathology / Q000503:physiopathology; D018450:Disease Progression; D000795:Fabry Disease / Q000453:epidemiology / Q000473:pathology* / Q000503:physiopathology; D005260:Female; D006801:Humans; D002546:Ischemic Attack, Transient / Q000453:epidemiology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D012307:Risk Factors; D012720:Severity of Illness Index