Abnormal vibration-induced illusion of movement in idiopathic focal dystonia: An endophenotypic marker?

Nafsika Frima, Jamal Nasir, Richard A. Grünewald

Research output: Contribution to JournalArticle

Abstract

The frequency of symptomatic dystonia in relatives of patients with idiopathic focal dystonia (IFD) is higher than expected from epidemiologic studies implying that genetic factors may be involved. Perception of the vibration-induced illusion of movement (VIIM) is subnormal in patients with IFD compared with healthy volunteers and the abnormality corrects with volitional fatigue of the vibrated arm. The aim of the study was to establish the heritability of the abnormality of VIIM. The perception of illusion of movement elicited by vibration of the biceps brachii tendon before and after fatigue of the muscles was investigated in 30 patients with torticollis, 57 of their first degree relatives, and 19 healthy volunteers. VIIM did not change after fatigue in healthy controls. Before fatiguing the muscles, patients' perception of VIIM was less than healthy controls, (P <0.01, unpaired t-test). After fatigue, the illusion of movement perceived by patients increased, so that it did not differ any more from that of the healthy control subjects (P <0.05, repeated measures ANOVA). First degree relatives' response to vibration varied; 45% of parents, 60.7% of siblings, and 63.6% of children had an "abnormal" response to vibration compared with 21% of healthy volunteers. In contrast to patients' response, the "abnormality" did not correct after volitional fatigue of the vibrated arm. The results suggest that abnormal VIIM may represent an endophenotypic marker for IFD, which interacts with other factors including central motor learning and compensation mechanisms in the expression of the dystonic phenotype.
Original languageEnglish
Pages (from-to)373-377
Number of pages5
JournalMovement Disorders
Volume23
Issue number3
DOIs
Publication statusPublished - 15 Feb 2008

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Dystonic Disorders
Vibration
Fatigue
Healthy Volunteers
Torticollis
Muscle Fatigue
Dystonia
Tendons
Siblings
Epidemiologic Studies
Analysis of Variance
Parents
Learning
Phenotype
Muscles

Keywords

  • Dystonia
  • Endophenotypic marker
  • Inheritance
  • Vibration-induced illusion of movement

Cite this

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title = "Abnormal vibration-induced illusion of movement in idiopathic focal dystonia: An endophenotypic marker?",
abstract = "The frequency of symptomatic dystonia in relatives of patients with idiopathic focal dystonia (IFD) is higher than expected from epidemiologic studies implying that genetic factors may be involved. Perception of the vibration-induced illusion of movement (VIIM) is subnormal in patients with IFD compared with healthy volunteers and the abnormality corrects with volitional fatigue of the vibrated arm. The aim of the study was to establish the heritability of the abnormality of VIIM. The perception of illusion of movement elicited by vibration of the biceps brachii tendon before and after fatigue of the muscles was investigated in 30 patients with torticollis, 57 of their first degree relatives, and 19 healthy volunteers. VIIM did not change after fatigue in healthy controls. Before fatiguing the muscles, patients' perception of VIIM was less than healthy controls, (P <0.01, unpaired t-test). After fatigue, the illusion of movement perceived by patients increased, so that it did not differ any more from that of the healthy control subjects (P <0.05, repeated measures ANOVA). First degree relatives' response to vibration varied; 45{\%} of parents, 60.7{\%} of siblings, and 63.6{\%} of children had an {"}abnormal{"} response to vibration compared with 21{\%} of healthy volunteers. In contrast to patients' response, the {"}abnormality{"} did not correct after volitional fatigue of the vibrated arm. The results suggest that abnormal VIIM may represent an endophenotypic marker for IFD, which interacts with other factors including central motor learning and compensation mechanisms in the expression of the dystonic phenotype.",
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Abnormal vibration-induced illusion of movement in idiopathic focal dystonia: An endophenotypic marker? / Frima, Nafsika; Nasir, Jamal; Grünewald, Richard A.

In: Movement Disorders, Vol. 23, No. 3, 15.02.2008, p. 373-377.

Research output: Contribution to JournalArticle

TY - JOUR

T1 - Abnormal vibration-induced illusion of movement in idiopathic focal dystonia: An endophenotypic marker?

AU - Frima, Nafsika

AU - Nasir, Jamal

AU - Grünewald, Richard A.

PY - 2008/2/15

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N2 - The frequency of symptomatic dystonia in relatives of patients with idiopathic focal dystonia (IFD) is higher than expected from epidemiologic studies implying that genetic factors may be involved. Perception of the vibration-induced illusion of movement (VIIM) is subnormal in patients with IFD compared with healthy volunteers and the abnormality corrects with volitional fatigue of the vibrated arm. The aim of the study was to establish the heritability of the abnormality of VIIM. The perception of illusion of movement elicited by vibration of the biceps brachii tendon before and after fatigue of the muscles was investigated in 30 patients with torticollis, 57 of their first degree relatives, and 19 healthy volunteers. VIIM did not change after fatigue in healthy controls. Before fatiguing the muscles, patients' perception of VIIM was less than healthy controls, (P <0.01, unpaired t-test). After fatigue, the illusion of movement perceived by patients increased, so that it did not differ any more from that of the healthy control subjects (P <0.05, repeated measures ANOVA). First degree relatives' response to vibration varied; 45% of parents, 60.7% of siblings, and 63.6% of children had an "abnormal" response to vibration compared with 21% of healthy volunteers. In contrast to patients' response, the "abnormality" did not correct after volitional fatigue of the vibrated arm. The results suggest that abnormal VIIM may represent an endophenotypic marker for IFD, which interacts with other factors including central motor learning and compensation mechanisms in the expression of the dystonic phenotype.

AB - The frequency of symptomatic dystonia in relatives of patients with idiopathic focal dystonia (IFD) is higher than expected from epidemiologic studies implying that genetic factors may be involved. Perception of the vibration-induced illusion of movement (VIIM) is subnormal in patients with IFD compared with healthy volunteers and the abnormality corrects with volitional fatigue of the vibrated arm. The aim of the study was to establish the heritability of the abnormality of VIIM. The perception of illusion of movement elicited by vibration of the biceps brachii tendon before and after fatigue of the muscles was investigated in 30 patients with torticollis, 57 of their first degree relatives, and 19 healthy volunteers. VIIM did not change after fatigue in healthy controls. Before fatiguing the muscles, patients' perception of VIIM was less than healthy controls, (P <0.01, unpaired t-test). After fatigue, the illusion of movement perceived by patients increased, so that it did not differ any more from that of the healthy control subjects (P <0.05, repeated measures ANOVA). First degree relatives' response to vibration varied; 45% of parents, 60.7% of siblings, and 63.6% of children had an "abnormal" response to vibration compared with 21% of healthy volunteers. In contrast to patients' response, the "abnormality" did not correct after volitional fatigue of the vibrated arm. The results suggest that abnormal VIIM may represent an endophenotypic marker for IFD, which interacts with other factors including central motor learning and compensation mechanisms in the expression of the dystonic phenotype.

KW - Dystonia

KW - Endophenotypic marker

KW - Inheritance

KW - Vibration-induced illusion of movement

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JO - Movement Disorders

JF - Movement Disorders

SN - 0885-3185

IS - 3

ER -