Evidence map›Paper›PMID 32711390›Full record

ArticleNeuroImage. Clinical2020

Cerebellar-cortical function and connectivity during sensorimotor behavior in aging FMR1 gene premutation carriers.

Walker S McKinney, James Bartolotti, Pravin Khemani, Jun Yi Wang, Randi J Hagerman, Matthew W Mosconi

Open access · goldAbstract read
In one paragraph

Article in NeuroImage. Clinical, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
2.0field-weighted citation impact, top 13% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

11 citing papers in PubMed, 13 citations in OpenAlex.

  1. Article
  2. Article
  3. Prosodic Differences in Women with theInternational journal of molecular sciences · 2025
    Article
  4. Review
  5. Article
  6. Article
  7. Sensorimotor and inhibitory control in agingFrontiers in human neuroscience · 2023
    Article
  8. Article
  9. Review
  10. Article
  11. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 3 institutions in 1 country.

Walker S McKinneyLife Span Institute and Kansas Center for Autism Research and Training (K-CART), Clinical Child Psychology Program, University of Kansas, 1000 Sunnyside Avenue, Lawrence, KS 66045, USA. Electronic address: wmckinney@ku.edu.
James BartolottiLife Span Institute and Kansas Center for Autism Research and Training (K-CART), Clinical Child Psychology Program, University of Kansas, 1000 Sunnyside Avenue, Lawrence, KS 66045, USA. Electronic address: jbartolotti@ku.edu.
Pravin KhemaniDepartment of Neurology, Swedish Neuroscience Institute, 550 17th Avenue, Suite 400, Seattle, WA 98122, USA. Electronic address: Pravin.Khemani@swedish.org.
Jun Yi WangCenter for Mind and Brain, University of California, Davis, 267 Cousteau Place, Davis, CA 95618, USA. Electronic address: jyiwang@ucdavis.edu.
Randi J HagermanMIND Institute and Department of Pediatrics, University of California, Davis School of Medicine, 2825 50th St., Sacramento, CA 95817, USA. Electronic address: rjhagerman@ucdavis.edu.
Matthew W MosconiLife Span Institute and Kansas Center for Autism Research and Training (K-CART), Clinical Child Psychology Program, University of Kansas, 1000 Sunnyside Avenue, Lawrence, KS 66045, USA. Electronic address: mosconi@ku.edu.
University of Kansas · USUniversity of California, Davis · USSwedish Medical Center · US

Funding

Using PCORnet to Expand the DS-CONNECT Cohort Through Healthcare System Recruitment, Incorporating Electronic Health Records, and Assessing Self-DeterminationU54HD090216 · NICHD · UNIVERSITY OF KANSAS LAWRENCE · PI COLOMBO, JOHN A. · 2016 to 2020
$6.2M
6 · The paper itself

Abstract

introductionPremutation carriers of the FMR1 gene are at risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disease characterized by motor, cognitive, and psychiatric decline as well as cerebellar and cerebral white matter pathology. Several studies have documented preclinical sensorimotor issues in aging premutation carriers, but the extent to which sensorimotor brain systems are affected and may represent early indicators of atypical neurodegeneration has not been determined. MATERIALS AND

methodsEighteen healthy controls and 16 FMR1 premutation carriers (including five with possible, probable, or definite FXTAS) group-matched on age, sex, and handedness completed a visually guided precision gripping task with their right hand during fMRI. During the test, they used a modified pinch grip to press at 60% of their maximum force against a custom fiber-optic transducer. Participants viewed a horizontal white force bar that moved upward with increased force and downward with decreased force and a static target bar that was red during rest and turned green to cue the participant to begin pressing at the beginning of each trial. Participants were instructed to press so that the white force bar stayed as steady as possible at the level of the green target bar. Trials were 2-sec in duration and alternated with 2-sec rest periods. Five 24-sec blocks consisting of six trials were presented. Participants' reaction time, the accuracy of their force relative to the target force, and the variability of their force accuracy across trials were examined. BOLD signal change and task-based functional connectivity (FC) were examined during force vs. rest.

resultsRelative to healthy controls, premutation carriers showed increased trial-to-trial variability of force output, though this was specific to younger premutation carriers in our sample. Relative to healthy controls, premutation carriers also showed reduced extrastriate activation during force relative to rest. FC between ipsilateral cerebellar Crus I and extrastriate cortex was reduced in premutation carriers compared to controls. Reduced Crus I-extrastriate FC was related to increased force accuracy variability in premutation carriers. Increased reaction time was associated with more severe clinically rated neurological abnormalities.

conclusionsFindings of reduced activation in extrastriate cortex and reduced Crus I-extrastriate FC implicate deficient visual feedback processing and reduced cerebellar modulation of corrective motor commands. Our results are consistent with documented cerebellar pathology and visual-spatial processing in FXTAS and pre-symptomatic premutation carriers, and suggest FC alterations of cerebellar-cortical networks during sensorimotor behavior may represent a "prodromal" feature associated with FXTAS degeneration.

Indexed as

Fragile X SyndromeNeurodegenerative DiseasesAgingAtaxiaFragile X Messenger Ribonucleoprotein 1HumansFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1Cerebellar Crus IExtrastriate cortexFMR1 premutationFragile X-associated tremor/ataxia syndrome (FXTAS)Functional connectivitySensorimotor

Identifiers

PMID32711390
PMCPMC7381687
OpenAlexW3038892476

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.