Abstract
Background: Recent evidence has shown that mitochondrial dysfunction may be significant in carriers of the Fragile X premutation. Purpose: The present study examined fatigue severity and body mass index (BMI) (two possible outcomes related to mitochondrial dysfunction) in premutation carriers with and without the Fragile X-associated Tremor Ataxia Syndrome (FXTAS) as compared to controls. Methods: Surveys to gather data on height and weight and fatigue impact (Fatigue Severity Scale) were sent out to previous research trial participants with Fragile X premutation-related disorders. Results: On the Fatigue Severity Scale, carriers with and without FXTAS had mean scores of 4.5 (SD 1.9) and 3.8 (SD 1.6), respectively, that differed significantly (p < 0.001) from the control mean score of 2.9 (SD 1.4). The mean BMI of carriers with FXTAS was 29.6 kg/m2 (SD 5.3) which differed significantly (p = 0.003) from the mean BMI of carriers without FXTAS of 26.9 kg/m2 (SD 5.1) and controls 26.7 kg/m2 (SD 4.4). However, premutation carriers without FXTAS did not differ significantly in BMI from controls. Conclusions: The present study suggests potentially important clinical outcomes that may be related to the mitochondrial dysfunction seen in molecular studies previously done with premutation carriers.
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