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2014 ; 29
(7
): 642-50
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Cognitive and psychological functioning in Fabry disease
#MMPMID25319043
Sigmundsdottir L
; Tchan MC
; Knopman AA
; Menzies GC
; Batchelor J
; Sillence DO
Arch Clin Neuropsychol
2014[Nov]; 29
(7
): 642-50
PMID25319043
show ga
Fabry disease is an X-linked lysosomal storage disorder which can result in
renal, cardiac, and cerebrovascular disease. Patients are at increased risk of
stroke and neuroimaging studies note cerebrovascular pathology. This study
provides a cognitive profile of a cohort of individuals with Fabry disease and
investigates the impact of pain, age, renal, cardiac, and cerebrovascular
functioning on cognition and psychological functioning. Seventeen Fabry patients
(12 males) with ages ranging 25 to 60 years (M = 46.6+11.8), and 15 age-matched
healthy controls (M = 46.2+12.7) were administered a comprehensive
neuropsychological battery. Fabry males demonstrated slower speed of information
processing, reduced performance on measures of executive functions (verbal
generation, reasoning, problem solving, perseveration), were more likely to show
clinically significant reductions, and were more likely to report symptoms of
anxiety and depression. Conversely, Fabry females performed at a similar level to
controls. Correlational analyses indicated a link between cognitive and clinical
measures of disease severity.
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