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2015 ; 84
(14
): 1454-64
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Clinical prodromes of neurodegeneration in Anderson-Fabry disease
#MMPMID25762709
Löhle M
; Hughes D
; Milligan A
; Richfield L
; Reichmann H
; Mehta A
; Schapira AH
Neurology
2015[Apr]; 84
(14
): 1454-64
PMID25762709
show ga
OBJECTIVE: To estimate the prevalence of prodromal clinical features of
neurodegeneration in patients with Anderson-Fabry disease (AFD) in comparison to
age-matched controls. METHODS: This is a single-center, prospective,
cross-sectional study in 167 participants (60 heterozygous females and 50
hemizygous males with genetically confirmed AFD, 57 age-matched controls) using a
clinical screening program consisting of structured interview, quantitative tests
of motor function, and assessments of cognition, depression, olfaction,
orthostatic intolerance, pain, REM sleep behavior disorder, and daytime
sleepiness. RESULTS: In comparison to age-matched controls (mean age 48.3 years),
patients with AFD (mean age 49.0 years) showed slower gait and transfer speed,
poorer fine manual dexterity, and lower hand speed, which was independent of
focal symptoms due to cerebrovascular disease. Patients with AFD were more
severely affected by depression, pain, and daytime sleepiness and had a lower
quality of life. These motor and nonmotor manifestations significantly correlated
with clinical disease severity. However, patients with AFD did not reveal
extrapyramidal motor features or signs of significant cognitive impairment,
hyposmia, orthostatic intolerance, or REM sleep behavior disorder, which commonly
precede later neurodegenerative disease. In our cohort, there were no differences
in neurologic manifestations of AFD between heterozygous females and hemizygous
males. CONCLUSIONS: Aside from cerebrovascular manifestations and small fiber
neuropathy, AFD results in a distinct neurologic phenotype comprising poorer
motor performance and specific nonmotor features. In contrast to functional loss
of glucocerebrosidase in Gaucher disease, ?-galactosidase deficiency in AFD is
not associated with a typical cluster of clinical features prodromal for
neurodegenerative diseases, such as Parkinson disease.
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