Non-Motor Features of Cervical Dystonia (CD)

NCT ID: NCT03471923

Last Updated: 2020-02-07

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

33 participants

Study Classification

OBSERVATIONAL

Study Start Date

2018-03-26

Study Completion Date

2019-12-02

Brief Summary

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This study will examine the prevalence of four previously identified non-motor markers in a population of cervical dystonia patients, unaffected family members, and healthy volunteers in an attempt to identify a distinct combination of non-motor symptoms that may be indicative of disease development.

Detailed Description

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The primary aim of this study is to identify the prevalence of four previously identified non-motor markers - (1) spatial discrimination threshold, (2) temporal discrimination threshold, (3) vibration-induced illusion of movement, and (4) kinesthesia - in a population of cervical dystonia patients, unaffected family members, and healthy volunteers (control group). Consenting participants will receive a neurological examination performed by a movement disorders neurologist, followed by an assessment of the four non-motor symptoms.

The investigators hypothesize that a distinct combination of non-motor symptoms will be more prevalent in the CD group, and therefore this set of symptoms may be indicative of disease development. This combination will be identified through analysis of the concurrence of the non-motor features across the three groups of participants. This study will fill an important unmet need, as to the investigators' knowledge there are no published studies assessing the comorbid presentation of these four non-motor symptoms in a single cervical dystonia population. The exploration of a distinct combination of concurrent non-motor symptoms as a marker for the development of cervical dystonia will improve the ability of movement disorders neurologists to diagnose the condition.

The results of this study will facilitate the investigators' longstanding aim of improving rates of cervical dystonia diagnosis. Cervical dystonia is currently diagnosed based upon the exclusion of other movement disorders; therefore, characterization of non-motor features in cervical dystonia patients will help to refine the diagnostic criteria for this condition. This investigation will also improve understanding of the factors associated with CD. Future studies can examine the source of these associated factors in order to help understand the cause of CD, since the etiology is currently unknown.

Conditions

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Cervical Dystonia Movement Disorders Focal Dystonia Signs and Symptoms Nervous System Diseases Neurologic Manifestations Neuromuscular Manifestations Spasmodic Torticollis

Study Design

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Observational Model Type

COHORT

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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CD Patients

Subjects must have a prior diagnosis of cervical dystonia and be capable of participating in all study procedures. Subjects will undergo assessment of non-motor features.

Assessment of Non-Motor Features

Intervention Type DIAGNOSTIC_TEST

All subjects will be assessed for four non-motor symptoms, including (1) spatial discrimination threshold, (2) temporal discrimination threshold, (3) vibration-induced illusion of movement, and (4) kinesthesia.

Family Members

Subjects must be a first order relation of a Vanderbilt patient diagnosed with cervical dystonia. The subject must pass a short neurological examination to ensure the subject does not have cervical dystonia or any sensory deficits. Subjects will undergo assessment of non-motor features.

Neurological Examination

Intervention Type DIAGNOSTIC_TEST

The family members and healthy volunteers will undergo elements of the neurological examination during which the movement disorders neurologist will look specifically for the presence of cervical dystonia and other sensory abnormalities. If the subject is found to have cervical dystonia or any other sensory abnormalities, the subject will be excluded from the study.

Assessment of Non-Motor Features

Intervention Type DIAGNOSTIC_TEST

All subjects will be assessed for four non-motor symptoms, including (1) spatial discrimination threshold, (2) temporal discrimination threshold, (3) vibration-induced illusion of movement, and (4) kinesthesia.

Healthy volunteers

Subjects must be healthy volunteers who are neurologically normal. The subject must pass a short neurological examination to ensure the subject does not have cervical dystonia or any sensory deficits. Subjects will undergo assessment of non-motor features.

Neurological Examination

Intervention Type DIAGNOSTIC_TEST

The family members and healthy volunteers will undergo elements of the neurological examination during which the movement disorders neurologist will look specifically for the presence of cervical dystonia and other sensory abnormalities. If the subject is found to have cervical dystonia or any other sensory abnormalities, the subject will be excluded from the study.

Assessment of Non-Motor Features

Intervention Type DIAGNOSTIC_TEST

All subjects will be assessed for four non-motor symptoms, including (1) spatial discrimination threshold, (2) temporal discrimination threshold, (3) vibration-induced illusion of movement, and (4) kinesthesia.

Interventions

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Neurological Examination

The family members and healthy volunteers will undergo elements of the neurological examination during which the movement disorders neurologist will look specifically for the presence of cervical dystonia and other sensory abnormalities. If the subject is found to have cervical dystonia or any other sensory abnormalities, the subject will be excluded from the study.

Intervention Type DIAGNOSTIC_TEST

Assessment of Non-Motor Features

All subjects will be assessed for four non-motor symptoms, including (1) spatial discrimination threshold, (2) temporal discrimination threshold, (3) vibration-induced illusion of movement, and (4) kinesthesia.

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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Inclusion Criteria

* Have a diagnosis of cervical dystonia, OR a first order relation of a Vanderbilt patient diagnosed with cervical dystonia, OR a healthy volunteer who is neurologically normal
* Capable of participating in all study procedures
* Willing and able to provide written or verbal informed consent.

Exclusion Criteria

* Subjects for whom participation in the study may cause medical harm
* Subjects who are not considered competent to make their own medical decisions
* Subjects who display sensory deficits during a short screening examination prior to study enrollment
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Vanderbilt University Medical Center

OTHER

Sponsor Role lead

Responsible Party

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Mallory Hacker

Research Instructor

Responsibility Role PRINCIPAL_INVESTIGATOR

Locations

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Vanderbilt University Medical Center Clinical Research Center

Nashville, Tennessee, United States

Site Status

Countries

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United States

References

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Crowner BE. Cervical dystonia: disease profile and clinical management. Phys Ther. 2007 Nov;87(11):1511-26. doi: 10.2522/ptj.20060272. Epub 2007 Sep 18.

Reference Type BACKGROUND
PMID: 17878433 (View on PubMed)

Stacy M. Epidemiology, clinical presentation, and diagnosis of cervical dystonia. Neurol Clin. 2008 May;26 Suppl 1:23-42. doi: 10.1016/s0733-8619(08)80003-5. No abstract available.

Reference Type BACKGROUND
PMID: 18603166 (View on PubMed)

Jinnah HA, Berardelli A, Comella C, Defazio G, Delong MR, Factor S, Galpern WR, Hallett M, Ludlow CL, Perlmutter JS, Rosen AR; Dystonia Coalition Investigators. The focal dystonias: current views and challenges for future research. Mov Disord. 2013 Jun 15;28(7):926-43. doi: 10.1002/mds.25567.

Reference Type BACKGROUND
PMID: 23893450 (View on PubMed)

Stamelou M, Edwards MJ, Hallett M, Bhatia KP. The non-motor syndrome of primary dystonia: clinical and pathophysiological implications. Brain. 2012 Jun;135(Pt 6):1668-81. doi: 10.1093/brain/awr224. Epub 2011 Sep 20.

Reference Type BACKGROUND
PMID: 21933808 (View on PubMed)

Bradley D, Whelan R, Kimmich O, O'Riordan S, Mulrooney N, Brady P, Walsh R, Reilly RB, Hutchinson S, Molloy F, Hutchinson M. Temporal discrimination thresholds in adult-onset primary torsion dystonia: an analysis by task type and by dystonia phenotype. J Neurol. 2012 Jan;259(1):77-82. doi: 10.1007/s00415-011-6125-7. Epub 2011 Jun 8.

Reference Type BACKGROUND
PMID: 21656045 (View on PubMed)

Chen H, Zhao EJ, Zhang W, Lu Y, Liu R, Huang X, Ciesielski-Jones AJ, Justice MA, Cousins DS, Peddada S. Meta-analyses on prevalence of selected Parkinson's nonmotor symptoms before and after diagnosis. Transl Neurodegener. 2015 Jan 8;4(1):1. doi: 10.1186/2047-9158-4-1. eCollection 2015.

Reference Type BACKGROUND
PMID: 25671103 (View on PubMed)

Frima N, Nasir J, Grunewald RA. Abnormal vibration-induced illusion of movement in idiopathic focal dystonia: an endophenotypic marker? Mov Disord. 2008 Feb 15;23(3):373-7. doi: 10.1002/mds.21838.

Reference Type BACKGROUND
PMID: 18044715 (View on PubMed)

Molloy FM, Carr TD, Zeuner KE, Dambrosia JM, Hallett M. Abnormalities of spatial discrimination in focal and generalized dystonia. Brain. 2003 Oct;126(Pt 10):2175-82. doi: 10.1093/brain/awg219. Epub 2003 Jun 23.

Reference Type BACKGROUND
PMID: 12821512 (View on PubMed)

Fiorio M, Gambarin M, Valente EM, Liberini P, Loi M, Cossu G, Moretto G, Bhatia KP, Defazio G, Aglioti SM, Fiaschi A, Tinazzi M. Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia? Brain. 2007 Jan;130(Pt 1):134-42. doi: 10.1093/brain/awl283. Epub 2006 Nov 14.

Reference Type BACKGROUND
PMID: 17105745 (View on PubMed)

Bradley D, Whelan R, Walsh R, O'Dwyer J, Reilly R, Hutchinson S, Molloy F, Hutchinson M. Comparing endophenotypes in adult-onset primary torsion dystonia. Mov Disord. 2010 Jan 15;25(1):84-90. doi: 10.1002/mds.22889.

Reference Type BACKGROUND
PMID: 19938165 (View on PubMed)

Westenberger A, Klein C. Genetics of dystonia. In: Dystonia and Dystonic Syndromes. ; 2015:27-48. doi:10.1007/978-3-7091-1516-9_3.

Reference Type BACKGROUND

Putzki N, Stude P, Konczak J, Graf K, Diener HC, Maschke M. Kinesthesia is impaired in focal dystonia. Mov Disord. 2006 Jun;21(6):754-60. doi: 10.1002/mds.20799.

Reference Type BACKGROUND
PMID: 16482525 (View on PubMed)

Walsh R, O'Dwyer JP, Sheikh IH, O'Riordan S, Lynch T, Hutchinson M. Sporadic adult onset dystonia: sensory abnormalities as an endophenotype in unaffected relatives. J Neurol Neurosurg Psychiatry. 2007 Sep;78(9):980-3. doi: 10.1136/jnnp.2006.105585.

Reference Type BACKGROUND
PMID: 17702779 (View on PubMed)

Bradley D, Whelan R, Walsh R, Reilly RB, Hutchinson S, Molloy F, Hutchinson M. Temporal discrimination threshold: VBM evidence for an endophenotype in adult onset primary torsion dystonia. Brain. 2009 Sep;132(Pt 9):2327-35. doi: 10.1093/brain/awp156. Epub 2009 Jun 12.

Reference Type BACKGROUND
PMID: 19525326 (View on PubMed)

Klingelhoefer L, Martino D, Martinez-Martin P, et al. Nonmotor symptoms and focal cervical dystonia: Observations from 102 patients. Basal Ganglia. 2014;4(3-4):117-120. doi:10.1016/j.baga.2014.10.002.

Reference Type BACKGROUND

Lobbezoo F, Tanguay R, Thon MT, Lavigne GJ. Pain perception in idiopathic cervical dystonia (spasmodic torticollis). Pain. 1996 Oct;67(2-3):483-91. doi: 10.1016/0304-3959(96)03153-3.

Reference Type BACKGROUND
PMID: 8951945 (View on PubMed)

Defazio G, Jankovic J, Giel JL, Papapetropoulos S. Descriptive epidemiology of cervical dystonia. Tremor Other Hyperkinet Mov (N Y). 2013 Nov 4;3:tre-03-193-4374-2. doi: 10.7916/D80C4TGJ. eCollection 2013.

Reference Type BACKGROUND
PMID: 24255801 (View on PubMed)

Other Identifiers

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171717

Identifier Type: -

Identifier Source: org_study_id

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