Head-impulse testing in Fabry disease--vestibular function in male and female patients.
OBJECTIVE
To study the prevalence of peripheral vestibular deficit in male and female patients with Fabry disease and to assess the effect of enzyme replacement therapy (ERT) on peripheral vestibular function using quantitative head-impulse testing.


METHODS
Using dual search-coils the vestibulo-ocular reflex during rapid rotational head thrusts to both sides was recorded in 21 patients (13 male, 8 female) with Fabry disease prior to ERT initiation. ERT consisted of infusions of gene-activated human alpha-galactosidase A (agalsidase alfa; Replagal) every 2 weeks at doses of 0.2 mg/kg. Eight patients were tested again approximately 6 and 12 months after the initiation of ERT.


RESULTS
At baseline examination, 15 of the patients with Fabry disease (71%; 11 males, 4 females) showed reduced peripheral vestibular function. The deficit was unilateral in nine patients (3 females) and bilateral in six patients (1 female). The severity of the vestibular deficit was not significantly different between male and female patients. After 12 months of ERT, the average vestibular deficit on the weaker side tended to improve; however, the change was not significant (p = 0.10).


CONCLUSIONS
Fabry disease affects peripheral vestibular function in both male and female patients. Females seem to be affected less frequently than males, but, on average, vestibular deficits are not different between the two groups. To confirm or reject the tendency for vestibular improvement during ERT, more patients need to be tested and longer follow-up periods are required.
Palla
A
A
Neurology Department, Zurich University Hospital, Switzerland. antpalla@access.unizh.ch
Widmer
U
U
Straumann
D
D
D000328:Adult; D000368:Aged; D000795:Fabry Disease / Q000188:drug therapy / Q000503:physiopathology*; D005260:Female; D006257:Head / Q000503:physiopathology; D006801:Humans; D007527:Isoenzymes / Q000627:therapeutic use; D008297:Male; D008875:Middle Aged; D009068:Movement / Q000502:physiology*; D011994:Recombinant Proteins; D012027:Reflex, Vestibulo-Ocular; D014722:Vestibule, Labyrinth / Q000503:physiopathology*; D000519:alpha-Galactosidase / Q000627:therapeutic use
D007527:Isoenzymes; D011994:Recombinant Proteins; C000627036:agalsidase alfa; D000519:alpha-Galactosidase