Fatigue and body mass index in the Fragile X premutation carrier

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 a...

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Published in:Fatigue (Abingdon, Eng.) Eng.), 2014-04, Vol.2 (2), p.64-72
Main Authors: Summers, Scott M., Cogswell, Jennifer, Goodrich, John E., Mu, Yi, Nguyen, Danh V., Brass, Steven D., Hagerman, Randi J.
Format: Article
Language:English
Subjects:
body mass index
fatigue
FMR1
Fragile X premutation
Fragile X-associated Tremor Ataxia Syndrome
trinucleotide repeat disorders
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container_end_page 72
container_issue 2
container_start_page 64
container_title Fatigue (Abingdon, Eng.)
container_volume 2
creator Summers, Scott M.
Cogswell, Jennifer
Goodrich, John E.
Mu, Yi
Nguyen, Danh V.
Brass, Steven D.
Hagerman, Randi J.
description 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 
doi_str_mv 10.1080/21641846.2014.881155
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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 &lt; 0.001) from the control mean score of 2.9 (SD 1.4). The mean BMI of carriers with FXTAS was 29.6 kg/m 2 (SD 5.3) which differed significantly (p = 0.003) from the mean BMI of carriers without FXTAS of 26.9 kg/m 2 (SD 5.1) and controls 26.7 kg/m 2 (SD 4.4). However, premutation carriers without FXTAS did not differ significantly in BMI from controls. 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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 &lt; 0.001) from the control mean score of 2.9 (SD 1.4). The mean BMI of carriers with FXTAS was 29.6 kg/m 2 (SD 5.3) which differed significantly (p = 0.003) from the mean BMI of carriers without FXTAS of 26.9 kg/m 2 (SD 5.1) and controls 26.7 kg/m 2 (SD 4.4). However, premutation carriers without FXTAS did not differ significantly in BMI from controls. 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source Taylor and Francis:Jisc Collections:Taylor and Francis Read and Publish Agreement 2024-2025:Medical Collection (Reading list)
subjects body mass index
fatigue
FMR1
Fragile X premutation
Fragile X-associated Tremor Ataxia Syndrome
trinucleotide repeat disorders
title Fatigue and body mass index in the Fragile X premutation carrier
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