ArticleNeurology. Genetics2016
Clinical and genetic features of cervical dystonia in a large multicenter cohort.
Registry-linked trialOpen access · goldAbstract read
In one paragraph
Article in Neurology. Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01373424 (Natural History and Biospecimen Repository for Dystonia; Comprehensive Rating Tools for Cervical Dystonia; Validity & Reliability of Diagnostic Methods & Measures of Spasmodic Dysphonia), which is not on this map. Cited by 28 papers.
0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed
4.0field-weighted citation impact, top 6% of its field
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.
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.
Natural History and Biospecimen Repository for Dystonia; Comprehensive Rating Tools for Cervical Dystonia; Validity & Reliability of Diagnostic Methods & Measures of Spasmodic Dysphonia
Who cites it
28 citing papers in PubMed, 53 citations in OpenAlex.
- GNAL-associated dystonia: clinical spectrum, genetic features, and genotype-phenotype correlations.Journal of neural transmission (Vienna, Austria : 1996) · 2026Article
- Nonmotor symptoms of craniocervical dystonia: a multicentre international study-using the Dystonia nonmotor symptoms questionnaire.Journal of neural transmission (Vienna, Austria : 1996) · 2026Observational
- Prevalence and treatment effects on non-motor symptoms in cervical dystonia: A systematic review and meta-analysis.Clinical parkinsonism & related disorders · 2026Review
- Do patients with cervical dystonia present a greater risk and more fear of falling?Arquivos de neuro-psiquiatria · 2025Article
- Pediatric Onset of Generalized Dystonia, Cognitive Impairment, and Dysmorphic Features in a Patient Carrying Compound Heterozygous GNAL Mutations.Movement disorders clinical practice · 2024Article
- Exploration of potential immune mechanisms in cervical dystonia.Parkinsonism & related disorders · 2024Article
- Isolated Cervical Dystonia: Diagnosis and Classification.Movement disorders : official journal of the Movement Disorder Society · 2023Review
- Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants.International journal of molecular sciences · 2023Article
- Dystonias: Clinical Recognition and the Role of Additional Diagnostic Testing.Seminars in neurology · 2023Article
- A Multi-center Genome-wide Association Study of Cervical Dystonia.Movement disorders : official journal of the Movement Disorder Society · 2021Article
- Predictive modeling of spread in adult-onset isolated dystonia: Key properties and effect of tremor inclusion.European journal of neurology · 2021Article
- Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.American journal of human genetics · 2021Article
- Emerging and converging molecular mechanisms in dystonia.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Isolated dystonia: clinical and genetic updates.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Experiences on The Administration of Botulinum Toxin in Movement Disorders.Journal of translational internal medicine · 2021Article
- Emotional well-being and pain could be a greater determinant of quality of life compared to motor severity in cervical dystonia.Journal of neural transmission (Vienna, Austria : 1996) · 2021Observational
- Article
- A metabolomic study of cervical dystonia.Parkinsonism & related disorders · 2021Article
- The Dystonia Coalition: A Multicenter Network for Clinical and Translational Studies.Frontiers in neurology · 2021Review
- Validation of a self-completed Dystonia Non-Motor Symptoms Questionnaire.Annals of clinical and translational neurology · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors at 1 institution in 1 country.
Mark S LeDouxDepartments of Neurology and Anatomy & Neurobiology (M.S.L., S.R.V., J.X., M.M.T.), University of Tennessee Health Science Center, Memphis, TN; Department of Neurology (J.S.P., L.J.W.), Washington University School of Medicine, St. Louis, MO; Departments of Neurology (A.R.R.), Human Genetics, and Pediatrics (H.A.J.), School of Medicine, Emory University, Atlanta, GA; Department of Neurology (P.H.), Vanderbilt University, Nashville, TN; Department of Neurological Sciences (C.L.C.), Rush University, Chicago, IL; Institute of Neurogenetics (A.W., J. Junker), University of Lübeck, Germany; Department of Neurology (J. Jankovic), Baylor College of Medicine, Houston, TX; Department of Neurology (R.L.B.), University of Rochester, NY; Department of Neurology (S.G.R.), University of Maryland, Baltimore, MD; Department of Neurology (R.L.R.), University of Florida, Gainesville, FL; Department of Neurology (B.D.B.), University of Colorado Denver School of Medicine, Aurora, CO; Center of Excellence in Neuroscience (S.C.), University of Montreal, QC, Canada; Mirken Department of Neurology (L.S.), Mt. Sinai Beth Israel Medical Center, New York, NY; Booth Gardner Parkinson's Care Center (P.A.), Kirkland, WA; and Department of Neurology (N.P.S.), University of Alabama at Birmingham, AL.
Satya R VemulaDepartments of Neurology and Anatomy & Neurobiology (M.S.L., S.R.V., J.X., M.M.T.), University of Tennessee Health Science Center, Memphis, TN; Department of Neurology (J.S.P., L.J.W.), Washington University School of Medicine, St. Louis, MO; Departments of Neurology (A.R.R.), Human Genetics, and Pediatrics (H.A.J.), School of Medicine, Emory University, Atlanta, GA; Department of Neurology (P.H.), Vanderbilt University, Nashville, TN; Department of Neurological Sciences (C.L.C.), Rush University, Chicago, IL; Institute of Neurogenetics (A.W., J. Junker), University of Lübeck, Germany; Department of Neurology (J. Jankovic), Baylor College of Medicine, Houston, TX; Department of Neurology (R.L.B.), University of Rochester, NY; Department of Neurology (S.G.R.), University of Maryland, Baltimore, MD; Department of Neurology (R.L.R.), University of Florida, Gainesville, FL; Department of Neurology (B.D.B.), University of Colorado Denver School of Medicine, Aurora, CO; Center of Excellence in Neuroscience (S.C.), University of Montreal, QC, Canada; Mirken Department of Neurology (L.S.), Mt. Sinai Beth Israel Medical Center, New York, NY; Booth Gardner Parkinson's Care Center (P.A.), Kirkland, WA; and Department of Neurology (N.P.S.), University of Alabama at Birmingham, AL.
Jianfeng XiaoDepartments of Neurology and Anatomy & Neurobiology (M.S.L., S.R.V., J.X., M.M.T.), University of Tennessee Health Science Center, Memphis, TN; Department of Neurology (J.S.P., L.J.W.), Washington University School of Medicine, St. Louis, MO; Departments of Neurology (A.R.R.), Human Genetics, and Pediatrics (H.A.J.), School of Medicine, Emory University, Atlanta, GA; Department of Neurology (P.H.), Vanderbilt University, Nashville, TN; Department of Neurological Sciences (C.L.C.), Rush University, Chicago, IL; Institute of Neurogenetics (A.W., J. Junker), University of Lübeck, Germany; Department of Neurology (J. Jankovic), Baylor College of Medicine, Houston, TX; Department of Neurology (R.L.B.), University of Rochester, NY; Department of Neurology (S.G.R.), University of Maryland, Baltimore, MD; Department of Neurology (R.L.R.), University of Florida, Gainesville, FL; Department of Neurology (B.D.B.), University of Colorado Denver School of Medicine, Aurora, CO; Center of Excellence in Neuroscience (S.C.), University of Montreal, QC, Canada; Mirken Department of Neurology (L.S.), Mt. Sinai Beth Israel Medical Center, New York, NY; Booth Gardner Parkinson's Care Center (P.A.), Kirkland, WA; and Department of Neurology (N.P.S.), University of Alabama at Birmingham, AL.
Misty M ThompsonDepartments of Neurology and Anatomy & Neurobiology (M.S.L., S.R.V., J.X., M.M.T.), University of Tennessee Health Science Center, Memphis, TN; Department of Neurology (J.S.P., L.J.W.), Washington University School of Medicine, St. Louis, MO; Departments of Neurology (A.R.R.), Human Genetics, and Pediatrics (H.A.J.), School of Medicine, Emory University, Atlanta, GA; Department of Neurology (P.H.), Vanderbilt University, Nashville, TN; Department of Neurological Sciences (C.L.C.), Rush University, Chicago, IL; Institute of Neurogenetics (A.W., J. Junker), University of Lübeck, Germany; Department of Neurology (J. Jankovic), Baylor College of Medicine, Houston, TX; Department of Neurology (R.L.B.), University of Rochester, NY; Department of Neurology (S.G.R.), University of Maryland, Baltimore, MD; Department of Neurology (R.L.R.), University of Florida, Gainesville, FL; Department of Neurology (B.D.B.), University of Colorado Denver School of Medicine, Aurora, CO; Center of Excellence in Neuroscience (S.C.), University of Montreal, QC, Canada; Mirken Department of Neurology (L.S.), Mt. Sinai Beth Israel Medical Center, New York, NY; Booth Gardner Parkinson's Care Center (P.A.), Kirkland, WA; and Department of Neurology (N.P.S.), University of Alabama at Birmingham, AL.
Joel S PerlmutterDepartments of Neurology and Anatomy & Neurobiology (M.S.L., S.R.V., J.X., M.M.T.), University of Tennessee Health Science Center, Memphis, TN; Department of Neurology (J.S.P., L.J.W.), Washington University School of Medicine, St. Louis, MO; Departments of Neurology (A.R.R.), Human Genetics, and Pediatrics (H.A.J.), School of Medicine, Emory University, Atlanta, GA; Department of Neurology (P.H.), Vanderbilt University, Nashville, TN; Department of Neurological Sciences (C.L.C.), Rush University, Chicago, IL; Institute of Neurogenetics (A.W., J. Junker), University of Lübeck, Germany; Department of Neurology (J. Jankovic), Baylor College of Medicine, Houston, TX; Department of Neurology (R.L.B.), University of Rochester, NY; Department of Neurology (S.G.R.), University of Maryland, Baltimore, MD; Department of Neurology (R.L.R.), University of Florida, Gainesville, FL; Department of Neurology (B.D.B.), University of Colorado Denver School of Medicine, Aurora, CO; Center of Excellence in Neuroscience (S.C.), University of Montreal, QC, Canada; Mirken Department of Neurology (L.S.), Mt. Sinai Beth Israel Medical Center, New York, NY; Booth Gardner Parkinson's Care Center (P.A.), Kirkland, WA; and Department of Neurology (N.P.S.), University of Alabama at Birmingham, AL.
Laura J WrightDepartments of Neurology and Anatomy & Neurobiology (M.S.L., S.R.V., J.X., M.M.T.), University of Tennessee Health Science Center, Memphis, TN; Department of Neurology (J.S.P., L.J.W.), Washington University School of Medicine, St. Louis, MO; Departments of Neurology (A.R.R.), Human Genetics, and Pediatrics (H.A.J.), School of Medicine, Emory University, Atlanta, GA; Department of Neurology (P.H.), Vanderbilt University, Nashville, TN; Department of Neurological Sciences (C.L.C.), Rush University, Chicago, IL; Institute of Neurogenetics (A.W., J. Junker), University of Lübeck, Germany; Department of Neurology (J. Jankovic), Baylor College of Medicine, Houston, TX; Department of Neurology (R.L.B.), University of Rochester, NY; Department of Neurology (S.G.R.), University of Maryland, Baltimore, MD; Department of Neurology (R.L.R.), University of Florida, Gainesville, FL; Department of Neurology (B.D.B.), University of Colorado Denver School of Medicine, Aurora, CO; Center of Excellence in Neuroscience (S.C.), University of Montreal, QC, Canada; Mirken Department of Neurology (L.S.), Mt. Sinai Beth Israel Medical Center, New York, NY; Booth Gardner Parkinson's Care Center (P.A.), Kirkland, WA; and Department of Neurology (N.P.S.), University of Alabama at Birmingham, AL.
H A JinnahDepartments of Neurology and Anatomy & Neurobiology (M.S.L., S.R.V., J.X., M.M.T.), University of Tennessee Health Science Center, Memphis, TN; Department of Neurology (J.S.P., L.J.W.), Washington University School of Medicine, St. Louis, MO; Departments of Neurology (A.R.R.), Human Genetics, and Pediatrics (H.A.J.), School of Medicine, Emory University, Atlanta, GA; Department of Neurology (P.H.), Vanderbilt University, Nashville, TN; Department of Neurological Sciences (C.L.C.), Rush University, Chicago, IL; Institute of Neurogenetics (A.W., J. Junker), University of Lübeck, Germany; Department of Neurology (J. Jankovic), Baylor College of Medicine, Houston, TX; Department of Neurology (R.L.B.), University of Rochester, NY; Department of Neurology (S.G.R.), University of Maryland, Baltimore, MD; Department of Neurology (R.L.R.), University of Florida, Gainesville, FL; Department of Neurology (B.D.B.), University of Colorado Denver School of Medicine, Aurora, CO; Center of Excellence in Neuroscience (S.C.), University of Montreal, QC, Canada; Mirken Department of Neurology (L.S.), Mt. Sinai Beth Israel Medical Center, New York, NY; Booth Gardner Parkinson's Care Center (P.A.), Kirkland, WA; and Department of Neurology (N.P.S.), University of Alabama at Birmingham, AL.
Ami R RosenDepartments of Neurology and Anatomy & Neurobiology (M.S.L., S.R.V., J.X., M.M.T.), University of Tennessee Health Science Center, Memphis, TN; Department of Neurology (J.S.P., L.J.W.), Washington University School of Medicine, St. Louis, MO; Departments of Neurology (A.R.R.), Human Genetics, and Pediatrics (H.A.J.), School of Medicine, Emory University, Atlanta, GA; Department of Neurology (P.H.), Vanderbilt University, Nashville, TN; Department of Neurological Sciences (C.L.C.), Rush University, Chicago, IL; Institute of Neurogenetics (A.W., J. Junker), University of Lübeck, Germany; Department of Neurology (J. Jankovic), Baylor College of Medicine, Houston, TX; Department of Neurology (R.L.B.), University of Rochester, NY; Department of Neurology (S.G.R.), University of Maryland, Baltimore, MD; Department of Neurology (R.L.R.), University of Florida, Gainesville, FL; Department of Neurology (B.D.B.), University of Colorado Denver School of Medicine, Aurora, CO; Center of Excellence in Neuroscience (S.C.), University of Montreal, QC, Canada; Mirken Department of Neurology (L.S.), Mt. Sinai Beth Israel Medical Center, New York, NY; Booth Gardner Parkinson's Care Center (P.A.), Kirkland, WA; and Department of Neurology (N.P.S.), University of Alabama at Birmingham, AL.
Peter HederaDepartments of Neurology and Anatomy & Neurobiology (M.S.L., S.R.V., J.X., M.M.T.), University of Tennessee Health Science Center, Memphis, TN; Department of Neurology (J.S.P., L.J.W.), Washington University School of Medicine, St. Louis, MO; Departments of Neurology (A.R.R.), Human Genetics, and Pediatrics (H.A.J.), School of Medicine, Emory University, Atlanta, GA; Department of Neurology (P.H.), Vanderbilt University, Nashville, TN; Department of Neurological Sciences (C.L.C.), Rush University, Chicago, IL; Institute of Neurogenetics (A.W., J. Junker), University of Lübeck, Germany; Department of Neurology (J. Jankovic), Baylor College of Medicine, Houston, TX; Department of Neurology (R.L.B.), University of Rochester, NY; Department of Neurology (S.G.R.), University of Maryland, Baltimore, MD; Department of Neurology (R.L.R.), University of Florida, Gainesville, FL; Department of Neurology (B.D.B.), University of Colorado Denver School of Medicine, Aurora, CO; Center of Excellence in Neuroscience (S.C.), University of Montreal, QC, Canada; Mirken Department of Neurology (L.S.), Mt. Sinai Beth Israel Medical Center, New York, NY; Booth Gardner Parkinson's Care Center (P.A.), Kirkland, WA; and Department of Neurology (N.P.S.), University of Alabama at Birmingham, AL.
Cynthia L ComellaDepartments of Neurology and Anatomy & Neurobiology (M.S.L., S.R.V., J.X., M.M.T.), University of Tennessee Health Science Center, Memphis, TN; Department of Neurology (J.S.P., L.J.W.), Washington University School of Medicine, St. Louis, MO; Departments of Neurology (A.R.R.), Human Genetics, and Pediatrics (H.A.J.), School of Medicine, Emory University, Atlanta, GA; Department of Neurology (P.H.), Vanderbilt University, Nashville, TN; Department of Neurological Sciences (C.L.C.), Rush University, Chicago, IL; Institute of Neurogenetics (A.W., J. Junker), University of Lübeck, Germany; Department of Neurology (J. Jankovic), Baylor College of Medicine, Houston, TX; Department of Neurology (R.L.B.), University of Rochester, NY; Department of Neurology (S.G.R.), University of Maryland, Baltimore, MD; Department of Neurology (R.L.R.), University of Florida, Gainesville, FL; Department of Neurology (B.D.B.), University of Colorado Denver School of Medicine, Aurora, CO; Center of Excellence in Neuroscience (S.C.), University of Montreal, QC, Canada; Mirken Department of Neurology (L.S.), Mt. Sinai Beth Israel Medical Center, New York, NY; Booth Gardner Parkinson's Care Center (P.A.), Kirkland, WA; and Department of Neurology (N.P.S.), University of Alabama at Birmingham, AL.
Anne WeissbachDepartments of Neurology and Anatomy & Neurobiology (M.S.L., S.R.V., J.X., M.M.T.), University of Tennessee Health Science Center, Memphis, TN; Department of Neurology (J.S.P., L.J.W.), Washington University School of Medicine, St. Louis, MO; Departments of Neurology (A.R.R.), Human Genetics, and Pediatrics (H.A.J.), School of Medicine, Emory University, Atlanta, GA; Department of Neurology (P.H.), Vanderbilt University, Nashville, TN; Department of Neurological Sciences (C.L.C.), Rush University, Chicago, IL; Institute of Neurogenetics (A.W., J. Junker), University of Lübeck, Germany; Department of Neurology (J. Jankovic), Baylor College of Medicine, Houston, TX; Department of Neurology (R.L.B.), University of Rochester, NY; Department of Neurology (S.G.R.), University of Maryland, Baltimore, MD; Department of Neurology (R.L.R.), University of Florida, Gainesville, FL; Department of Neurology (B.D.B.), University of Colorado Denver School of Medicine, Aurora, CO; Center of Excellence in Neuroscience (S.C.), University of Montreal, QC, Canada; Mirken Department of Neurology (L.S.), Mt. Sinai Beth Israel Medical Center, New York, NY; Booth Gardner Parkinson's Care Center (P.A.), Kirkland, WA; and Department of Neurology (N.P.S.), University of Alabama at Birmingham, AL.
Johanna JunkerDepartments of Neurology and Anatomy & Neurobiology (M.S.L., S.R.V., J.X., M.M.T.), University of Tennessee Health Science Center, Memphis, TN; Department of Neurology (J.S.P., L.J.W.), Washington University School of Medicine, St. Louis, MO; Departments of Neurology (A.R.R.), Human Genetics, and Pediatrics (H.A.J.), School of Medicine, Emory University, Atlanta, GA; Department of Neurology (P.H.), Vanderbilt University, Nashville, TN; Department of Neurological Sciences (C.L.C.), Rush University, Chicago, IL; Institute of Neurogenetics (A.W., J. Junker), University of Lübeck, Germany; Department of Neurology (J. Jankovic), Baylor College of Medicine, Houston, TX; Department of Neurology (R.L.B.), University of Rochester, NY; Department of Neurology (S.G.R.), University of Maryland, Baltimore, MD; Department of Neurology (R.L.R.), University of Florida, Gainesville, FL; Department of Neurology (B.D.B.), University of Colorado Denver School of Medicine, Aurora, CO; Center of Excellence in Neuroscience (S.C.), University of Montreal, QC, Canada; Mirken Department of Neurology (L.S.), Mt. Sinai Beth Israel Medical Center, New York, NY; Booth Gardner Parkinson's Care Center (P.A.), Kirkland, WA; and Department of Neurology (N.P.S.), University of Alabama at Birmingham, AL.
Joseph JankovicDepartments of Neurology and Anatomy & Neurobiology (M.S.L., S.R.V., J.X., M.M.T.), University of Tennessee Health Science Center, Memphis, TN; Department of Neurology (J.S.P., L.J.W.), Washington University School of Medicine, St. Louis, MO; Departments of Neurology (A.R.R.), Human Genetics, and Pediatrics (H.A.J.), School of Medicine, Emory University, Atlanta, GA; Department of Neurology (P.H.), Vanderbilt University, Nashville, TN; Department of Neurological Sciences (C.L.C.), Rush University, Chicago, IL; Institute of Neurogenetics (A.W., J. Junker), University of Lübeck, Germany; Department of Neurology (J. Jankovic), Baylor College of Medicine, Houston, TX; Department of Neurology (R.L.B.), University of Rochester, NY; Department of Neurology (S.G.R.), University of Maryland, Baltimore, MD; Department of Neurology (R.L.R.), University of Florida, Gainesville, FL; Department of Neurology (B.D.B.), University of Colorado Denver School of Medicine, Aurora, CO; Center of Excellence in Neuroscience (S.C.), University of Montreal, QC, Canada; Mirken Department of Neurology (L.S.), Mt. Sinai Beth Israel Medical Center, New York, NY; Booth Gardner Parkinson's Care Center (P.A.), Kirkland, WA; and Department of Neurology (N.P.S.), University of Alabama at Birmingham, AL.
Richard L BarbanoDepartments of Neurology and Anatomy & Neurobiology (M.S.L., S.R.V., J.X., M.M.T.), University of Tennessee Health Science Center, Memphis, TN; Department of Neurology (J.S.P., L.J.W.), Washington University School of Medicine, St. Louis, MO; Departments of Neurology (A.R.R.), Human Genetics, and Pediatrics (H.A.J.), School of Medicine, Emory University, Atlanta, GA; Department of Neurology (P.H.), Vanderbilt University, Nashville, TN; Department of Neurological Sciences (C.L.C.), Rush University, Chicago, IL; Institute of Neurogenetics (A.W., J. Junker), University of Lübeck, Germany; Department of Neurology (J. Jankovic), Baylor College of Medicine, Houston, TX; Department of Neurology (R.L.B.), University of Rochester, NY; Department of Neurology (S.G.R.), University of Maryland, Baltimore, MD; Department of Neurology (R.L.R.), University of Florida, Gainesville, FL; Department of Neurology (B.D.B.), University of Colorado Denver School of Medicine, Aurora, CO; Center of Excellence in Neuroscience (S.C.), University of Montreal, QC, Canada; Mirken Department of Neurology (L.S.), Mt. Sinai Beth Israel Medical Center, New York, NY; Booth Gardner Parkinson's Care Center (P.A.), Kirkland, WA; and Department of Neurology (N.P.S.), University of Alabama at Birmingham, AL.
Stephen G ReichDepartments of Neurology and Anatomy & Neurobiology (M.S.L., S.R.V., J.X., M.M.T.), University of Tennessee Health Science Center, Memphis, TN; Department of Neurology (J.S.P., L.J.W.), Washington University School of Medicine, St. Louis, MO; Departments of Neurology (A.R.R.), Human Genetics, and Pediatrics (H.A.J.), School of Medicine, Emory University, Atlanta, GA; Department of Neurology (P.H.), Vanderbilt University, Nashville, TN; Department of Neurological Sciences (C.L.C.), Rush University, Chicago, IL; Institute of Neurogenetics (A.W., J. Junker), University of Lübeck, Germany; Department of Neurology (J. Jankovic), Baylor College of Medicine, Houston, TX; Department of Neurology (R.L.B.), University of Rochester, NY; Department of Neurology (S.G.R.), University of Maryland, Baltimore, MD; Department of Neurology (R.L.R.), University of Florida, Gainesville, FL; Department of Neurology (B.D.B.), University of Colorado Denver School of Medicine, Aurora, CO; Center of Excellence in Neuroscience (S.C.), University of Montreal, QC, Canada; Mirken Department of Neurology (L.S.), Mt. Sinai Beth Israel Medical Center, New York, NY; Booth Gardner Parkinson's Care Center (P.A.), Kirkland, WA; and Department of Neurology (N.P.S.), University of Alabama at Birmingham, AL.
Ramon L RodriguezDepartments of Neurology and Anatomy & Neurobiology (M.S.L., S.R.V., J.X., M.M.T.), University of Tennessee Health Science Center, Memphis, TN; Department of Neurology (J.S.P., L.J.W.), Washington University School of Medicine, St. Louis, MO; Departments of Neurology (A.R.R.), Human Genetics, and Pediatrics (H.A.J.), School of Medicine, Emory University, Atlanta, GA; Department of Neurology (P.H.), Vanderbilt University, Nashville, TN; Department of Neurological Sciences (C.L.C.), Rush University, Chicago, IL; Institute of Neurogenetics (A.W., J. Junker), University of Lübeck, Germany; Department of Neurology (J. Jankovic), Baylor College of Medicine, Houston, TX; Department of Neurology (R.L.B.), University of Rochester, NY; Department of Neurology (S.G.R.), University of Maryland, Baltimore, MD; Department of Neurology (R.L.R.), University of Florida, Gainesville, FL; Department of Neurology (B.D.B.), University of Colorado Denver School of Medicine, Aurora, CO; Center of Excellence in Neuroscience (S.C.), University of Montreal, QC, Canada; Mirken Department of Neurology (L.S.), Mt. Sinai Beth Israel Medical Center, New York, NY; Booth Gardner Parkinson's Care Center (P.A.), Kirkland, WA; and Department of Neurology (N.P.S.), University of Alabama at Birmingham, AL.
Brian D BermanDepartments of Neurology and Anatomy & Neurobiology (M.S.L., S.R.V., J.X., M.M.T.), University of Tennessee Health Science Center, Memphis, TN; Department of Neurology (J.S.P., L.J.W.), Washington University School of Medicine, St. Louis, MO; Departments of Neurology (A.R.R.), Human Genetics, and Pediatrics (H.A.J.), School of Medicine, Emory University, Atlanta, GA; Department of Neurology (P.H.), Vanderbilt University, Nashville, TN; Department of Neurological Sciences (C.L.C.), Rush University, Chicago, IL; Institute of Neurogenetics (A.W., J. Junker), University of Lübeck, Germany; Department of Neurology (J. Jankovic), Baylor College of Medicine, Houston, TX; Department of Neurology (R.L.B.), University of Rochester, NY; Department of Neurology (S.G.R.), University of Maryland, Baltimore, MD; Department of Neurology (R.L.R.), University of Florida, Gainesville, FL; Department of Neurology (B.D.B.), University of Colorado Denver School of Medicine, Aurora, CO; Center of Excellence in Neuroscience (S.C.), University of Montreal, QC, Canada; Mirken Department of Neurology (L.S.), Mt. Sinai Beth Israel Medical Center, New York, NY; Booth Gardner Parkinson's Care Center (P.A.), Kirkland, WA; and Department of Neurology (N.P.S.), University of Alabama at Birmingham, AL.
Sylvain ChouinardDepartments of Neurology and Anatomy & Neurobiology (M.S.L., S.R.V., J.X., M.M.T.), University of Tennessee Health Science Center, Memphis, TN; Department of Neurology (J.S.P., L.J.W.), Washington University School of Medicine, St. Louis, MO; Departments of Neurology (A.R.R.), Human Genetics, and Pediatrics (H.A.J.), School of Medicine, Emory University, Atlanta, GA; Department of Neurology (P.H.), Vanderbilt University, Nashville, TN; Department of Neurological Sciences (C.L.C.), Rush University, Chicago, IL; Institute of Neurogenetics (A.W., J. Junker), University of Lübeck, Germany; Department of Neurology (J. Jankovic), Baylor College of Medicine, Houston, TX; Department of Neurology (R.L.B.), University of Rochester, NY; Department of Neurology (S.G.R.), University of Maryland, Baltimore, MD; Department of Neurology (R.L.R.), University of Florida, Gainesville, FL; Department of Neurology (B.D.B.), University of Colorado Denver School of Medicine, Aurora, CO; Center of Excellence in Neuroscience (S.C.), University of Montreal, QC, Canada; Mirken Department of Neurology (L.S.), Mt. Sinai Beth Israel Medical Center, New York, NY; Booth Gardner Parkinson's Care Center (P.A.), Kirkland, WA; and Department of Neurology (N.P.S.), University of Alabama at Birmingham, AL.
Lawrence SevertDepartments of Neurology and Anatomy & Neurobiology (M.S.L., S.R.V., J.X., M.M.T.), University of Tennessee Health Science Center, Memphis, TN; Department of Neurology (J.S.P., L.J.W.), Washington University School of Medicine, St. Louis, MO; Departments of Neurology (A.R.R.), Human Genetics, and Pediatrics (H.A.J.), School of Medicine, Emory University, Atlanta, GA; Department of Neurology (P.H.), Vanderbilt University, Nashville, TN; Department of Neurological Sciences (C.L.C.), Rush University, Chicago, IL; Institute of Neurogenetics (A.W., J. Junker), University of Lübeck, Germany; Department of Neurology (J. Jankovic), Baylor College of Medicine, Houston, TX; Department of Neurology (R.L.B.), University of Rochester, NY; Department of Neurology (S.G.R.), University of Maryland, Baltimore, MD; Department of Neurology (R.L.R.), University of Florida, Gainesville, FL; Department of Neurology (B.D.B.), University of Colorado Denver School of Medicine, Aurora, CO; Center of Excellence in Neuroscience (S.C.), University of Montreal, QC, Canada; Mirken Department of Neurology (L.S.), Mt. Sinai Beth Israel Medical Center, New York, NY; Booth Gardner Parkinson's Care Center (P.A.), Kirkland, WA; and Department of Neurology (N.P.S.), University of Alabama at Birmingham, AL.
Pinky AgarwalDepartments of Neurology and Anatomy & Neurobiology (M.S.L., S.R.V., J.X., M.M.T.), University of Tennessee Health Science Center, Memphis, TN; Department of Neurology (J.S.P., L.J.W.), Washington University School of Medicine, St. Louis, MO; Departments of Neurology (A.R.R.), Human Genetics, and Pediatrics (H.A.J.), School of Medicine, Emory University, Atlanta, GA; Department of Neurology (P.H.), Vanderbilt University, Nashville, TN; Department of Neurological Sciences (C.L.C.), Rush University, Chicago, IL; Institute of Neurogenetics (A.W., J. Junker), University of Lübeck, Germany; Department of Neurology (J. Jankovic), Baylor College of Medicine, Houston, TX; Department of Neurology (R.L.B.), University of Rochester, NY; Department of Neurology (S.G.R.), University of Maryland, Baltimore, MD; Department of Neurology (R.L.R.), University of Florida, Gainesville, FL; Department of Neurology (B.D.B.), University of Colorado Denver School of Medicine, Aurora, CO; Center of Excellence in Neuroscience (S.C.), University of Montreal, QC, Canada; Mirken Department of Neurology (L.S.), Mt. Sinai Beth Israel Medical Center, New York, NY; Booth Gardner Parkinson's Care Center (P.A.), Kirkland, WA; and Department of Neurology (N.P.S.), University of Alabama at Birmingham, AL.
Natividad P StoverDepartments of Neurology and Anatomy & Neurobiology (M.S.L., S.R.V., J.X., M.M.T.), University of Tennessee Health Science Center, Memphis, TN; Department of Neurology (J.S.P., L.J.W.), Washington University School of Medicine, St. Louis, MO; Departments of Neurology (A.R.R.), Human Genetics, and Pediatrics (H.A.J.), School of Medicine, Emory University, Atlanta, GA; Department of Neurology (P.H.), Vanderbilt University, Nashville, TN; Department of Neurological Sciences (C.L.C.), Rush University, Chicago, IL; Institute of Neurogenetics (A.W., J. Junker), University of Lübeck, Germany; Department of Neurology (J. Jankovic), Baylor College of Medicine, Houston, TX; Department of Neurology (R.L.B.), University of Rochester, NY; Department of Neurology (S.G.R.), University of Maryland, Baltimore, MD; Department of Neurology (R.L.R.), University of Florida, Gainesville, FL; Department of Neurology (B.D.B.), University of Colorado Denver School of Medicine, Aurora, CO; Center of Excellence in Neuroscience (S.C.), University of Montreal, QC, Canada; Mirken Department of Neurology (L.S.), Mt. Sinai Beth Israel Medical Center, New York, NY; Booth Gardner Parkinson's Care Center (P.A.), Kirkland, WA; and Department of Neurology (N.P.S.), University of Alabama at Birmingham, AL.
University of Tennessee Health Science Center · US
Funding
Dystonia CoalitionU54NS065701 · NINDS · EMORY UNIVERSITY · PI JINNAH, HYDER A · 2009 to 2014
$7.0MDystonia CoalitionU54TR001456 · NCATS · EMORY UNIVERSITY · PI JINNAH, HYDER A · 2015 to 2016
$2.5MGenetics and Biology of CIZ1 in Cervical DystoniaR01NS082296 · NINDS · UNIVERSITY OF TENNESSEE HEALTH SCI CTR · PI LEDOUX, MARK S · 2013 to 2016
$1.3MThe Role of THAP1 in DystoniaR01NS069936 · NINDS · UNIVERSITY OF TENNESSEE HEALTH SCI CTR · PI LEDOUX, MARK S · 2010 to 2013
$1.3MNCATS NIH HHS U54 TR001456NINDS NIH HHS R01 NS069936NINDS NIH HHS R01 NS082296NINDS NIH HHS U54 NS065701
Abstract
objectiveTo characterize the clinical and genetic features of cervical dystonia (CD).
methodsParticipants enrolled in the Dystonia Coalition biorepository (NCT01373424) with initial manifestation as CD were included in this study (n = 1,000). Data intake included demographics, family history, and the Global Dystonia Rating Scale. Participants were screened for sequence variants (SVs) in GNAL, THAP1, and Exon 5 of TOR1A.
resultsThe majority of participants were Caucasian (95%) and female (75%). The mean age at onset and disease duration were 45.5 ± 13.6 and 14.6 ± 11.8 years, respectively. At the time of assessment, 68.5% had involvement limited to the neck, shoulder(s), and proximal arm(s), whereas 47.4% had dystonia limited to the neck. The remaining 31.5% of the individuals exhibited more extensive anatomical spread. A head tremor was noted in 62% of the patients. Head tremor and laryngeal dystonia were more common in females. Psychiatric comorbidities, mainly depression and anxiety, were reported by 32% of the participants and were more common in females. Family histories of dystonia, parkinsonian disorder, and tremor were present in 14%, 11%, and 29% of the patients, respectively. Pathogenic or likely pathogenic SVs in THAP1, TOR1A, and GNAL were identified in 8 participants (0.8%). Two individuals harbored novel missense SVs in Exon 5 of TOR1A. Synonymous and noncoding SVs in THAP1 and GNAL were identified in 4% of the cohort.
conclusionsHead tremor, laryngeal dystonia, and psychiatric comorbidities are more common in female participants with CD. Coding and noncoding variants in GNAL, THAP1, and TOR1A make small contributions to the pathogenesis of CD.
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NCT01373424ClinicalTrials.gov
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