ArticleNeurology2023
Patient-Reported Impact of Symptoms in Friedreich Ataxia.
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In one paragraph
Article in Neurology, 2023. 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
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11citing papers in PubMed
1.3field-weighted citation impact, top 22% of its field
What it found
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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.
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Who cites it
11 citing papers in PubMed, 14 citations in OpenAlex.
- Development and Validation of the Inclusion Body Myositis-Health Index: A Disease-Specific Patient-Reported Outcome Measure for Use in Clinical Trials and Drug-Labeling Claims.Journal of clinical neuromuscular disease · 2026Article
- Exploring US patient and caregiver perspectives on burden associated with Friedreich Ataxia.Journal of patient-reported outcomes · 2026Article
- Friedreich's ataxia patient pathway in Europe.Frontiers in health services · 2026Article
- Patient- and Caregiver-Reported Impact of Symptoms in Alzheimer Disease, Mild Cognitive Impairment, and Dementia.Neurology. Clinical practice · 2025Article
- Gait characteristics in people with Friedreich ataxia: daily life versus clinic measures.Frontiers in neurology · 2025Article
- Biomarkers of balance and gait deficits inFrontiers in aging neuroscience · 2025Review
- Quantitative Gait and Balance Outcomes for Ataxia Trials: Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers.Cerebellum (London, England) · 2024Review
- Friedreich Ataxia Caregiver-Reported Health Index: Development of a Novel, Disease-Specific Caregiver-Reported Outcome Measure.Neurology. Clinical practice · 2024Article
- Patient-reported impact of symptoms in adrenoleukodystrophy (PRISM-ALD).Orphanet journal of rare diseases · 2024Article
- Patient-Reported Impact of Symptoms in Spinal and Bulbar Muscular Atrophy.Neurology. Clinical practice · 2023Article
- Friedreich's Ataxia-Health Index: Development and Validation of a Novel Disease-Specific Patient-Reported Outcome Measure.Neurology. Clinical practice · 2023Article
Corrections and comments
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Authors and funding
17 authors at 1 institution in 1 country.
Jamison SeaburyFrom the University of Rochester Center for Health + Technology (CHeT) (J.S., B.C., S.R., A.V., E.W., J.W., C.H.), NY; Stritch School of Medicine (D.A.), Loyola University Chicago, IL; Department of Neurology (N.D., C.H.), University of Rochester, NY; Pittsford Sutherland High School (J.H.), NY; PepGen Inc. (J.L.), Boston, MA; Children's Hospital of Philadelphia (CHOP) (D.R.L., C.P.), PA; University of Florida College of Medicine (S.H.S.), Gainesville; Friedreich's Ataxia Research Alliance (FARA) (S.W.), Downingtown, PA; and Princeton University School of Public and International Affairs (C.Z.), NJ.
Danae AlexandrouFrom the University of Rochester Center for Health + Technology (CHeT) (J.S., B.C., S.R., A.V., E.W., J.W., C.H.), NY; Stritch School of Medicine (D.A.), Loyola University Chicago, IL; Department of Neurology (N.D., C.H.), University of Rochester, NY; Pittsford Sutherland High School (J.H.), NY; PepGen Inc. (J.L.), Boston, MA; Children's Hospital of Philadelphia (CHOP) (D.R.L., C.P.), PA; University of Florida College of Medicine (S.H.S.), Gainesville; Friedreich's Ataxia Research Alliance (FARA) (S.W.), Downingtown, PA; and Princeton University School of Public and International Affairs (C.Z.), NJ.
Nuran DilekFrom the University of Rochester Center for Health + Technology (CHeT) (J.S., B.C., S.R., A.V., E.W., J.W., C.H.), NY; Stritch School of Medicine (D.A.), Loyola University Chicago, IL; Department of Neurology (N.D., C.H.), University of Rochester, NY; Pittsford Sutherland High School (J.H.), NY; PepGen Inc. (J.L.), Boston, MA; Children's Hospital of Philadelphia (CHOP) (D.R.L., C.P.), PA; University of Florida College of Medicine (S.H.S.), Gainesville; Friedreich's Ataxia Research Alliance (FARA) (S.W.), Downingtown, PA; and Princeton University School of Public and International Affairs (C.Z.), NJ.
Brittany CohenFrom the University of Rochester Center for Health + Technology (CHeT) (J.S., B.C., S.R., A.V., E.W., J.W., C.H.), NY; Stritch School of Medicine (D.A.), Loyola University Chicago, IL; Department of Neurology (N.D., C.H.), University of Rochester, NY; Pittsford Sutherland High School (J.H.), NY; PepGen Inc. (J.L.), Boston, MA; Children's Hospital of Philadelphia (CHOP) (D.R.L., C.P.), PA; University of Florida College of Medicine (S.H.S.), Gainesville; Friedreich's Ataxia Research Alliance (FARA) (S.W.), Downingtown, PA; and Princeton University School of Public and International Affairs (C.Z.), NJ.
John HeatwoleFrom the University of Rochester Center for Health + Technology (CHeT) (J.S., B.C., S.R., A.V., E.W., J.W., C.H.), NY; Stritch School of Medicine (D.A.), Loyola University Chicago, IL; Department of Neurology (N.D., C.H.), University of Rochester, NY; Pittsford Sutherland High School (J.H.), NY; PepGen Inc. (J.L.), Boston, MA; Children's Hospital of Philadelphia (CHOP) (D.R.L., C.P.), PA; University of Florida College of Medicine (S.H.S.), Gainesville; Friedreich's Ataxia Research Alliance (FARA) (S.W.), Downingtown, PA; and Princeton University School of Public and International Affairs (C.Z.), NJ. chad_heatwole@urmc.rochester.edu.
Jane LarkindaleFrom the University of Rochester Center for Health + Technology (CHeT) (J.S., B.C., S.R., A.V., E.W., J.W., C.H.), NY; Stritch School of Medicine (D.A.), Loyola University Chicago, IL; Department of Neurology (N.D., C.H.), University of Rochester, NY; Pittsford Sutherland High School (J.H.), NY; PepGen Inc. (J.L.), Boston, MA; Children's Hospital of Philadelphia (CHOP) (D.R.L., C.P.), PA; University of Florida College of Medicine (S.H.S.), Gainesville; Friedreich's Ataxia Research Alliance (FARA) (S.W.), Downingtown, PA; and Princeton University School of Public and International Affairs (C.Z.), NJ.
David R LynchFrom the University of Rochester Center for Health + Technology (CHeT) (J.S., B.C., S.R., A.V., E.W., J.W., C.H.), NY; Stritch School of Medicine (D.A.), Loyola University Chicago, IL; Department of Neurology (N.D., C.H.), University of Rochester, NY; Pittsford Sutherland High School (J.H.), NY; PepGen Inc. (J.L.), Boston, MA; Children's Hospital of Philadelphia (CHOP) (D.R.L., C.P.), PA; University of Florida College of Medicine (S.H.S.), Gainesville; Friedreich's Ataxia Research Alliance (FARA) (S.W.), Downingtown, PA; and Princeton University School of Public and International Affairs (C.Z.), NJ.ORCID 0000-0001-7168-214X
Courtney ParkFrom the University of Rochester Center for Health + Technology (CHeT) (J.S., B.C., S.R., A.V., E.W., J.W., C.H.), NY; Stritch School of Medicine (D.A.), Loyola University Chicago, IL; Department of Neurology (N.D., C.H.), University of Rochester, NY; Pittsford Sutherland High School (J.H.), NY; PepGen Inc. (J.L.), Boston, MA; Children's Hospital of Philadelphia (CHOP) (D.R.L., C.P.), PA; University of Florida College of Medicine (S.H.S.), Gainesville; Friedreich's Ataxia Research Alliance (FARA) (S.W.), Downingtown, PA; and Princeton University School of Public and International Affairs (C.Z.), NJ.
Spencer RoseroFrom the University of Rochester Center for Health + Technology (CHeT) (J.S., B.C., S.R., A.V., E.W., J.W., C.H.), NY; Stritch School of Medicine (D.A.), Loyola University Chicago, IL; Department of Neurology (N.D., C.H.), University of Rochester, NY; Pittsford Sutherland High School (J.H.), NY; PepGen Inc. (J.L.), Boston, MA; Children's Hospital of Philadelphia (CHOP) (D.R.L., C.P.), PA; University of Florida College of Medicine (S.H.S.), Gainesville; Friedreich's Ataxia Research Alliance (FARA) (S.W.), Downingtown, PA; and Princeton University School of Public and International Affairs (C.Z.), NJ.
Sub H SubramonyFrom the University of Rochester Center for Health + Technology (CHeT) (J.S., B.C., S.R., A.V., E.W., J.W., C.H.), NY; Stritch School of Medicine (D.A.), Loyola University Chicago, IL; Department of Neurology (N.D., C.H.), University of Rochester, NY; Pittsford Sutherland High School (J.H.), NY; PepGen Inc. (J.L.), Boston, MA; Children's Hospital of Philadelphia (CHOP) (D.R.L., C.P.), PA; University of Florida College of Medicine (S.H.S.), Gainesville; Friedreich's Ataxia Research Alliance (FARA) (S.W.), Downingtown, PA; and Princeton University School of Public and International Affairs (C.Z.), NJ.ORCID 0000-0002-8052-9240
Anika VarmaFrom the University of Rochester Center for Health + Technology (CHeT) (J.S., B.C., S.R., A.V., E.W., J.W., C.H.), NY; Stritch School of Medicine (D.A.), Loyola University Chicago, IL; Department of Neurology (N.D., C.H.), University of Rochester, NY; Pittsford Sutherland High School (J.H.), NY; PepGen Inc. (J.L.), Boston, MA; Children's Hospital of Philadelphia (CHOP) (D.R.L., C.P.), PA; University of Florida College of Medicine (S.H.S.), Gainesville; Friedreich's Ataxia Research Alliance (FARA) (S.W.), Downingtown, PA; and Princeton University School of Public and International Affairs (C.Z.), NJ.
Ellen WagnerFrom the University of Rochester Center for Health + Technology (CHeT) (J.S., B.C., S.R., A.V., E.W., J.W., C.H.), NY; Stritch School of Medicine (D.A.), Loyola University Chicago, IL; Department of Neurology (N.D., C.H.), University of Rochester, NY; Pittsford Sutherland High School (J.H.), NY; PepGen Inc. (J.L.), Boston, MA; Children's Hospital of Philadelphia (CHOP) (D.R.L., C.P.), PA; University of Florida College of Medicine (S.H.S.), Gainesville; Friedreich's Ataxia Research Alliance (FARA) (S.W.), Downingtown, PA; and Princeton University School of Public and International Affairs (C.Z.), NJ.
Susan WaltherFrom the University of Rochester Center for Health + Technology (CHeT) (J.S., B.C., S.R., A.V., E.W., J.W., C.H.), NY; Stritch School of Medicine (D.A.), Loyola University Chicago, IL; Department of Neurology (N.D., C.H.), University of Rochester, NY; Pittsford Sutherland High School (J.H.), NY; PepGen Inc. (J.L.), Boston, MA; Children's Hospital of Philadelphia (CHOP) (D.R.L., C.P.), PA; University of Florida College of Medicine (S.H.S.), Gainesville; Friedreich's Ataxia Research Alliance (FARA) (S.W.), Downingtown, PA; and Princeton University School of Public and International Affairs (C.Z.), NJ.
Jennifer WeinsteinFrom the University of Rochester Center for Health + Technology (CHeT) (J.S., B.C., S.R., A.V., E.W., J.W., C.H.), NY; Stritch School of Medicine (D.A.), Loyola University Chicago, IL; Department of Neurology (N.D., C.H.), University of Rochester, NY; Pittsford Sutherland High School (J.H.), NY; PepGen Inc. (J.L.), Boston, MA; Children's Hospital of Philadelphia (CHOP) (D.R.L., C.P.), PA; University of Florida College of Medicine (S.H.S.), Gainesville; Friedreich's Ataxia Research Alliance (FARA) (S.W.), Downingtown, PA; and Princeton University School of Public and International Affairs (C.Z.), NJ.
McKenzie WellsFrom the University of Rochester Center for Health + Technology (CHeT) (J.S., B.C., S.R., A.V., E.W., J.W., C.H.), NY; Stritch School of Medicine (D.A.), Loyola University Chicago, IL; Department of Neurology (N.D., C.H.), University of Rochester, NY; Pittsford Sutherland High School (J.H.), NY; PepGen Inc. (J.L.), Boston, MA; Children's Hospital of Philadelphia (CHOP) (D.R.L., C.P.), PA; University of Florida College of Medicine (S.H.S.), Gainesville; Friedreich's Ataxia Research Alliance (FARA) (S.W.), Downingtown, PA; and Princeton University School of Public and International Affairs (C.Z.), NJ.
Christine ZizziFrom the University of Rochester Center for Health + Technology (CHeT) (J.S., B.C., S.R., A.V., E.W., J.W., C.H.), NY; Stritch School of Medicine (D.A.), Loyola University Chicago, IL; Department of Neurology (N.D., C.H.), University of Rochester, NY; Pittsford Sutherland High School (J.H.), NY; PepGen Inc. (J.L.), Boston, MA; Children's Hospital of Philadelphia (CHOP) (D.R.L., C.P.), PA; University of Florida College of Medicine (S.H.S.), Gainesville; Friedreich's Ataxia Research Alliance (FARA) (S.W.), Downingtown, PA; and Princeton University School of Public and International Affairs (C.Z.), NJ.
Chad HeatwoleFrom the University of Rochester Center for Health + Technology (CHeT) (J.S., B.C., S.R., A.V., E.W., J.W., C.H.), NY; Stritch School of Medicine (D.A.), Loyola University Chicago, IL; Department of Neurology (N.D., C.H.), University of Rochester, NY; Pittsford Sutherland High School (J.H.), NY; PepGen Inc. (J.L.), Boston, MA; Children's Hospital of Philadelphia (CHOP) (D.R.L., C.P.), PA; University of Florida College of Medicine (S.H.S.), Gainesville; Friedreich's Ataxia Research Alliance (FARA) (S.W.), Downingtown, PA; and Princeton University School of Public and International Affairs (C.Z.), NJ. chad_heatwole@urmc.rochester.edu.ORCID 0000-0002-2900-6612
Children's Hospital of Philadelphia · US
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesTo determine the prevalence and relative importance of symptoms experienced by children and adults with Friedreich ataxia (FA) and to identify factors associated with a higher burden of disease.
methodsWe conducted qualitative interviews with individuals with FA and caregivers of pediatric individuals with FA to identify potential symptoms of importance to those living with FA. We subsequently performed a cross-sectional study to assess which symptoms have the highest prevalence and importance in FA and to determine which factors are associated with a higher burden of disease.
resultsThirty-nine participants provided 2,527 quotes regarding the symptomatic burden of FA. Two hundred two individuals (153 individuals with FA and 49 caregivers) participated in a subsequent cross-sectional study. Individuals with FA and caregivers identified impaired coordination, limitations with mobility and walking, inability to do activities, fatigue, and lower extremity weakness as the most prevalent and life-altering symptomatic themes in FA. Muscle stiffness and functional staging for ataxia were associated with the prevalence of symptomatic themes in FA. In addition, the length of smaller GAA expansion and the mean length of both GAA expansions were strongly associated with the onset of symptoms in FA. DISCUSSION: There are a wide variety of symptoms that affect the lives of individuals with FA. These symptoms, many underrecognized, have different levels of importance and occur at different rates in the FA population. The most common and life altering of these symptoms represent potential targets for future therapeutic interventions.
Indexed as
Friedreich AtaxiaAdultAtaxiaChildCross-Sectional StudiesHumansPatient Reported Outcome MeasuresWalking
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