Evidence map›Paper›PMID 27287737›Full record

ReviewCerebellum (London, England)2016

Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers.

Deborah A Hall, Erin Robertson, Annie L Shelton, Molly C Losh, Montserrat Mila, Esther Granell Moreno, Beatriz Gomez-Anson, Verónica Martínez-Cerdeño, Jim Grigsby, Reymundo Lozano and 4 more

Open access · bronzeAbstract readReview
In one paragraph

Review in Cerebellum (London, England), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed
3.3field-weighted citation impact, top 8% 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

34 citing papers in PubMed, 42 citations in OpenAlex.

  1. Interaction of FXTAS Family History and College Degree Attainment Predicts Trajectories of Cognitive and Motor Symptoms in FMR1 Premutation Carrier Women.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2026
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  16. Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community-Based Cohort.Movement disorders : official journal of the Movement Disorder Society · 2021
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  20. Prodromal Markers of Upper Limb Deficits inMovement disorders clinical practice · 2020
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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

14 authors at 9 institutions in 4 countries.

Deborah A HallDepartment of Neurological Sciences, Rush University, Chicago, IL, USA.
Erin RobertsonDepartment of Anatomy and Cell Biology, Rush University, 507 Academic Facility, 600 South Paulina Street, Chicago, IL, 60612, USA.
Annie L SheltonSchool of Psychological Sciences and Monash Institute of Cognitive and Clinical Neurosciences, Monash University, Melbourne, Australia.
Molly C LoshRoxelyn and Richard Pepper Department of Communication Sciences and Disorders, Northwestern University, Evanston, IL, USA.
Montserrat MilaServei de Bioquímica i Genètica Molecular. Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.
Esther Granell MorenoNeuroradiology Unit, Hospital Santa Creu i Sant Pau, Barcelona, Spain.
Beatriz Gomez-AnsonNeuroradiology Unit, Hospital Santa Creu i Sant Pau, Barcelona, Spain.
Verónica Martínez-CerdeñoDepartment of Pathology and Laboratory Medicine, University of California at Davis Medical Center, Sacramento, CA, USA.
Jim GrigsbyDepartments of Medicine and Psychology at the University of Colorado Denver, Aurora, CO, USA.
Reymundo LozanoSeaver Autism Center for Research and Treatment, Departments of Genetics and Genomic Sciences, Psychiatry, and Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Randi HagermanDepartment of Pediatrics & MIND Institute, University of California at Davis Medical Center, Sacramento, CA, USA.
Lorena Santa MariaCytogenetics and Molecular Laboratory, Institute of Nutrition and Food Technology (INTA), University of Chile, Santiago, Chile.
Elizabeth Berry-KravisDepartment of Neurological Sciences, Rush University, Chicago, IL, USA.
Joan A O'KeefeDepartment of Neurological Sciences, Rush University, Chicago, IL, USA. joan_a_okeefe@rush.edu.
Rush University · USHospital de Sant Pau · ESUniversity of California Davis Medical Center · USCentre for Biomedical Network Research on Rare Diseases · ESIcahn School of Medicine at Mount Sinai · USMonash University · AUNorthwestern University · USUniversity of Chile · CLUniversity of Colorado Denver · US

Funding

A Family-Genetic Study of Autism and Fragile X SyndromeR01MH091131 · NIMH · NORTHWESTERN UNIVERSITY · PI Molly C Losh · 2012 to 2026
$10.1M
A Family-Genetic Study of Language in AutismR01DC010191 · NIDCD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Molly C Losh · 2010 to 2026
$7.8M
Cortical and subcortical chandelier cell pathophysiology and symptomatology in autismR01MH094681 · NIMH · UNIVERSITY OF CALIFORNIA AT DAVIS · PI Veronica Martinez-Cerdeno · 2011 to 2026
$6.5M
T32 training grant in medical genetics.T32GM082773 · NIGMS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Laszlo Tamas Kozicz, Eva Morava-Kozicz · 2008 to 2026
$4.9M
Adult Neurological Phenotypes of Fragile X Gray Zone ExpansionR01NS082416 · NINDS · RUSH UNIVERSITY MEDICAL CENTER · PI HALL, DEBORAH A · 2013 to 2016
$1.2M
Impact of Cognitive function on Balance and Gait Markers for FXTASK01HD088762 · NICHD · RUSH UNIVERSITY MEDICAL CENTER · PI O'KEEFE, JOAN A · 2016 to 2021
$711k
NICHD NIH HHS K01 HD088762NIDCD NIH HHS R01 DC010191NIGMS NIH HHS T32 GM082773NIMH NIH HHS R01 MH091131NIMH NIH HHS R01 MH094681NINDS NIH HHS R01 NS082416
6 · The paper itself

Abstract

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder caused by a repeat expansion in the fragile X mental retardation 1 (FMR1) gene. The disorder is characterized by kinetic tremor and cerebellar ataxia, shows age-dependent penetrance, and occurs more frequently in men. This paper summarizes the key emerging issues in FXTAS as presented at the Second International Conference on the FMR1 Premutation: Basic Mechanisms & Clinical Involvement in 2015. The topics discussed include phenotype-genotype relationships, neurobehavioral function, and updates on FXTAS genetics and imaging.

Indexed as

HeterozygoteAnimalsAtaxiaCongresses as TopicFragile X Messenger Ribonucleoprotein 1Fragile X SyndromeHumansPhenotypeTremorFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1CognitionFMR1 geneticsFMR1 premutationFragile X-associated tremor/ataxia syndrome (FXTAS)Neuroimaging

Identifiers

PMID27287737
PMCPMC7608648
OpenAlexW2414644525

What OpenQuestion holds

Textmetadata
LicenceTDM
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.