Functional motor control deficits in older FMR1 premutation carriers.
Aged
Ataxia
/ physiopathology
Biomechanical Phenomena
Female
Fingers
/ physiopathology
Foot
/ physiopathology
Fragile X Mental Retardation Protein
/ genetics
Fragile X Syndrome
/ physiopathology
Heterozygote
Humans
Isometric Contraction
/ physiology
Male
Middle Aged
Motor Activity
/ physiology
Muscle Contraction
/ physiology
Recruitment, Neurophysiological
/ physiology
Tremor
/ physiopathology
FMR1 premutation
Force control
Motor unit activity
Stepping
Journal
Experimental brain research
ISSN: 1432-1106
Titre abrégé: Exp Brain Res
Pays: Germany
ID NLM: 0043312
Informations de publication
Date de publication:
Sep 2019
Sep 2019
Historique:
received:
08
02
2019
accepted:
23
05
2019
pubmed:
5
6
2019
medline:
1
2
2020
entrez:
5
6
2019
Statut:
ppublish
Résumé
Individuals with fragile X mental retardation 1 (FMR1) gene premutations are at increased risk for fragile X-associated tremor/ataxia syndrome (FXTAS) during aging. However, it is unknown whether older FMR1 premutation carriers, with or without FXTAS, exhibit functional motor control deficits compared with healthy individuals. The purpose of this study, therefore, was to determine whether older FMR1 premutation carriers exhibit impaired ability to perform functional motor tasks. Eight FMR1 premutation carriers (age: 58.88 ± 8.36 years) and eight age- and sex-matched healthy individuals (60.13 ± 9.25 years) performed (1) a steady isometric force control task with the index finger at 20% of their maximum voluntary contraction (MVC) and; (2) a single-step task. During the finger abduction task, firing rate of multiple motor units of the first dorsal interosseous (FDI) muscle was recorded. Compared with healthy controls, FMR1 premutation carriers exhibited (1) greater force variability (coefficient of variation of force) during isometric force (1.48 ± 1.02 vs. 0.63 ± 0.37%; P = 0.04); (2) reduced firing rate of multiple motor units during steady force, and; (3) reduced velocity of their weight transfer during stepping (156.62 ± 26.24 vs. 191.86 ± 18.83 cm/s; P = 0.01). These findings suggest that older FMR1 premutation carriers exhibit functional motor control deficits that reflect either subclinical issues associated with premutations independent of FXTAS, or prodromal markers of the development of FXTAS.
Identifiants
pubmed: 31161414
doi: 10.1007/s00221-019-05566-3
pii: 10.1007/s00221-019-05566-3
pmc: PMC6679741
mid: NIHMS1530822
doi:
Substances chimiques
FMR1 protein, human
0
Fragile X Mental Retardation Protein
139135-51-6
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2269-2278Subventions
Organisme : NIMH NIH HHS
ID : R01 MH112734
Pays : United States
Organisme : NIMH NIH HHS
ID : K23 MH092696
Pays : United States
Organisme : Eunice Kennedy Shriver National Institute of Child Health and Human Development
ID : 090216
Organisme : National Institute of Mental Health
ID : 112734
Pays : United States
Organisme : NICHD NIH HHS
ID : P30 HD002528
Pays : United States
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