scholarly journals Heritability of proprioceptive senses

2018 ◽  
Vol 125 (4) ◽  
pp. 972-982 ◽  
Author(s):  
Julia Missitzi ◽  
Nickos Geladas ◽  
Angelica Misitzi ◽  
Leonidas Misitzis ◽  
Joseph Classen ◽  
...  
Keyword(s):  
Neural Development ◽  
Elbow Flexion ◽  
Position Sense ◽  
Total Variance ◽  
Twin Model ◽  
Motor Learning And Control ◽  
Movement Sense ◽  
Genetic And Environmental Factors ◽  
Complex Human Traits ◽  
Force Sense

Heritability studies using the twin model have provided the basis to disentangle genetic and environmental factors that contribute to several complex human traits. However, the relative importance of these factors to individual differences in proprioception is largely unknown despite the fact that proprioceptive senses are of great importance, allowing us to respond to stimuli stemming from the space around us and react to altering circumstances. Hence, a total of 44 healthy male twins (11 MZ and 11 DZ pairs), 19–28 yr old, were examined for movement, position, and force sense at the elbow joint, and their heritability estimates were computed. Results showed that genetic factors explained 1) 72 and 76% of the total variance of movement sense at the start and the end of the movement, respectively, 2) 60 to 77% of the total variance of position sense, depending on the angle of elbow flexion and whether forearm positioning was active or passive, and 3) 73 and 70% of the total variance of the force sense at 90 and 60° of elbow flexion, respectively. It is concluded that proprioception assessed by these conscious sensations is to a substantial degree genetically dependent, with heritability indexes ranging from 0.60 to 0.77, depending on the task.NEW & NOTEWORTHY Proprioceptive acuity varies among people, but it is not known how much of this variability is due to differences in their genes. This study is the first to report that proprioception, expressed as movement sense, position sense, and force sense, is substantially heritable, and it is conceivable that this may have implications for motor learning and control, neural development, and neurorehabilitation.

scholarly journals Bilateral Proprioceptive Evaluation in Individuals With Unilateral Chronic Ankle Instability

2017 ◽  
Vol 52 (4) ◽  
pp. 360-367 ◽  
Author(s):  
Andreia S. P. Sousa ◽  
João Leite ◽  
Bianca Costa ◽  
Rubim Santos
Keyword(s):  
Outcome Measure ◽  
Ankle Instability ◽  
Position Sense ◽  
Chronic Ankle Instability ◽  
Joint Position Sense ◽  
Control Group ◽  
Injured Limb ◽  
History Of ◽  
Ankle Proprioception ◽  
Force Sense

Context:  Despite extensive research on chronic ankle instability, the findings regarding proprioception have been conflicting and focused only on the injured limb. Also, the different components of proprioception have been evaluated in isolation. Objective:  To evaluate bilateral ankle proprioception in individuals with unilateral ankle instability. Design:  Cohort study. Setting:  Research laboratory center in a university. Patients or Other Participants:  Twenty-four individuals with a history of unilateral ankle sprain and chronic ankle instability (mechanical ankle instability group, n = 10; functional ankle instability [FAI] group, n = 14) and 20 controls. Main Outcome Measure(s):  Ankle active and passive joint position sense, kinesthesia, and force sense. Results:  We observed a significant interaction between the effects of limb and group for kinesthesia (F = 3.27, P = .049). Increased error values were observed in the injured limb of the FAI group compared with the control group (P = .031, Cohen d = 0.47). Differences were also evident for force sense (F = 9.31, P < .001): the FAI group demonstrated increased error versus the control group (injured limb: P < .001, Cohen d = 1.28; uninjured limb: P = .009, Cohen d = 0.89) and the mechanical ankle instability group (uninjured limb: P = .023, Cohen d = 0.76). Conclusions:  Individuals with unilateral FAI had increased error ipsilaterally (injured limb) for inversion movement detection (kinesthesia) and evertor force sense and increased error contralaterally (uninjured limb) for evertor force sense.

Evaluation of proprioception in denervated and healthy wrist joints

2020 ◽  
Vol 45 (4) ◽  
pp. 408-413
Author(s):  
Susanne Rein ◽  
Jochen Winter ◽  
Thomas Kremer ◽  
Frank Siemers ◽  
Ursula Range ◽  
...  
Keyword(s):  
Neuromuscular Control ◽  
Position Sense ◽  
Joint Position Sense ◽  
Joint Position ◽  
Flexor Carpi Ulnaris ◽  
Proprioceptive Deficit ◽  
Extensor Carpi Radialis ◽  
Wrist Denervation ◽  
Force Sense ◽  
Reflex Time

We recruited 25 patients after complete wrist denervation and 60 healthy adults to investigate conscious and unconscious proprioception of the wrist. Ipsi- and contralateral joint-position sense, force sense, and wrist reflexes were measured. The latter were triggered by a trapdoor, recording electromyographic signals from the extensor carpi radialis brevis, extensor carpi ulnaris, flexor carpi radialis, and flexor carpi ulnaris muscles. No significant differences were found for joint position sense, force sense, and wrist reflexes between both groups, except for reflex time of the flexor carpi ulnaris after denervation of the left wrist as compared with the left flexor carpi ulnaris in controls or in right operated wrists. At a mean follow-up of 32 months (range 8 to 133), we found no proprioceptive deficit of the conscious proprioceptive qualities of joint position sense, force sense, and the unconscious proprioceptive neuromuscular control of wrist reflex time for most muscles after complete wrist denervation. We conclude from this study that complete wrist denervation does not affect the proprioceptive senses of joint position, force sense, and reflex time of the wrist.

scholarly journals Exploring the Relationships Between Altered Body Perception, Limb Position Sense, and Limb Movement Sense in Complex Regional Pain Syndrome

2019 ◽  
Vol 20 (1) ◽  
pp. 17-27 ◽  
Author(s):  
Clémentine Brun ◽  
Nicolas Giorgi ◽  
Anne-Marie Pinard ◽  
Martin Gagné ◽  
Candida S. McCabe ◽  
...  
Keyword(s):  
Complex Regional Pain Syndrome ◽  
Pain Syndrome ◽  
Position Sense ◽  
Limb Movement ◽  
Body Perception ◽  
Limb Position ◽  
Movement Sense

A longitudinal study of personality and major depression in a population-based sample of male twins

2007 ◽  
Vol 37 (8) ◽  
pp. 1163-1172 ◽  
Author(s):  
AYMAN H. FANOUS ◽  
MICHAEL C. NEALE ◽  
STEVEN H. AGGEN ◽  
KENNETH S. KENDLER
Keyword(s):  
Major Depression ◽  
Environmental Factors ◽  
Structural Equation ◽  
Causal Effect ◽  
Population Based ◽  
Twin Model ◽  
Genetic Overlap ◽  
Genetic And Environmental Factors ◽  
One Year ◽  
Time To Onset

ABSTRACTBackgroundThe relationship between personality and psychiatric illness is complex. It is not clear whether one directly causes the other.MethodIn a population-based sample of male twins (n=3030), we attempted to predict major depression (MD) from neuroticism (N) and extraversion (E) and vice versa, to evaluate the causal, scar, state, and prodromal hypotheses. In a longitudinal, structural equation twin model, we decomposed the covariation between N and MD into (a) genetic and environmental factors that are common to both traits, as well as specific to each one and (b) direct causal effects of N at time 1 on subsequent MD, as well as between MD and subsequent N.ResultsE was negatively correlated with lifetime and one-year prevalence of MD. N predicted the new onset of MD, and was predicted by both current and past MD. It did not predict the time to onset of MD. All of the covariation between N and MD was due to additive genetic and individual-specific environmental factors shared by both traits and a direct causal path between MD and N assessed later. No genetic factors were unique to either trait.ConclusionsIn men, N may be a vulnerability factor for MD but does not cause it directly. However, MD may have a direct causal effect on N. The genetic overlap between N and MD in men may be greater than in women.

scholarly journals The structure of genetic and environmental risk factors for phobias in women

2011 ◽  
Vol 41 (9) ◽  
pp. 1987-1995 ◽  
Author(s):  
N. Czajkowski ◽  
K. S. Kendler ◽  
K. Tambs ◽  
E. Røysamb ◽  
T. Reichborn-Kjennerud
Keyword(s):  
Environmental Factors ◽  
Social Phobia ◽  
Population Based ◽  
The Other ◽  
Twin Model ◽  
Co Morbidity ◽  
Twin Models ◽  
Best Fitting ◽  
Dsm Iv ◽  
Genetic And Environmental Factors

BackgroundTo explore the genetic and environmental factors underlying the co-occurrence of lifetime diagnoses of DSM-IV phobia.MethodFemale twins (n=1430) from the population-based Norwegian Institute of Public Health Twin Panel were assessed at personal interview for DSM-IV lifetime specific phobia, social phobia and agoraphobia. Comorbidity between the phobias were assessed by odds ratios (ORs) and polychoric correlations and multivariate twin models were fitted in Mx.ResultsPhenotypic correlations of lifetime phobia diagnoses ranged from 0.55 (agoraphobia and social phobia, OR 10.95) to 0.06 (animal phobia and social phobia, OR 1.21). In the best fitting twin model, which did not include shared environmental factors, heritability estimates for the phobias ranged from 0.43 to 0.63. Comorbidity between the phobias was accounted for by two common liability factors. The first loaded principally on animal phobia and did not influence the complex phobias (agoraphobia and social phobia). The second liability factor strongly influenced the complex phobias, but also loaded weak to moderate on all the other phobias. Blood phobia was mainly influenced by a specific genetic factor, which accounted for 51% of the total and 81% of the genetic variance.ConclusionsPhobias are highly co-morbid and heritable. Our results suggest that the co-morbidity between phobias is best explained by two distinct liability factors rather than a single factor, as has been assumed in most previous multivariate twin analyses. One of these factors was specific to the simple phobias, while the other was more general. Blood phobia was mainly influenced by disorder specific genetic factors.

scholarly journals Identifying the genetic basis and molecular mechanisms underlying phenotypic correlation between complex human traits using a gene-based approach

2020 ◽  
Author(s):  
Jiashun Zheng ◽  
Jialiang Gu ◽  
Chris Fuller ◽  
Hao Li
Keyword(s):  
Neural Development ◽  
Complex Traits ◽  
Genetic Similarity ◽  
Genetic Basis ◽  
Molecular Mechanisms ◽  
Gwas Data ◽  
Skeletal Muscle Regeneration ◽  
Phenotypic Correlation ◽  
Significant Similarity ◽  
Complex Human Traits

Abstract Phenotypic correlations between complex human traits have long been observed based on epidemiological studies. However, the genetic basis and underlying mechanisms are largely unknown. The recent accumulation of GWAS data has made it possible to analyze the genetic similarity between human traits through comparative analysis. Here we developed a gene-based approach to measure genetic similarity between a pair of traits and to delineate the shared genes/pathways, through three steps: 1) translating SNP-phenotype association profile to gene-phenotype association profile by integrating GWAS with eQTL data; 2) measuring the similarity between a pair of traits by a normalized distance between the two gene-phenotype association profiles; 3) delineating genes/pathways supporting the similarity. Application of this approach to a set of GWAS data covering 59 human traits detected significant similarity between many known and unexpected pairs of traits; a significant fraction of them are not detectable by SNP based similarity measures. Examples include Height and Schizophrenia, Cancer and Alzheimer’s Disease, and Rheumatoid Arthritis and Crohn’s disease. Functional analysis revealed specific genes/pathways shared by these pairs. For example, Height and Schizophrenia are co-associated with genes involved in neural development, skeletal muscle regeneration, protein synthesis, magnesium homeostasis, and immune response, suggesting growth and development as a common theme underlying both traits. Our approach can detect yet unknown relationships between complex traits and generate mechanistic hypotheses, and has the potential to improve diagnosis and treatment by transferring knowledge from one disease to another.

scholarly journals Contributions of skin and muscle afferent input to movement sense in the human hand

2011 ◽  
Vol 105 (4) ◽  
pp. 1879-1888 ◽  
Author(s):  
Paul J. Cordo ◽  
Jean-Louis Horn ◽  
Daniela Künster ◽  
Anne Cherry ◽  
Alex Bratt ◽  
...  
Keyword(s):  
Healthy Adult ◽  
Position Sense ◽  
Afferent Input ◽  
Joint Position Sense ◽  
Human Hand ◽  
Neutral Position ◽  
Left Hand ◽  
Multiple Parameters ◽  
Movement Sense ◽  
Movement Parameters

In the stationary hand, static joint-position sense originates from multimodal somatosensory input (e.g., joint, skin, and muscle). In the moving hand, however, it is uncertain how movement sense arises from these different submodalities of proprioceptors. In contrast to static-position sense, movement sense includes multiple parameters such as motion detection, direction, joint angle, and velocity. Because movement sense is both multimodal and multiparametric, it is not known how different movement parameters are represented by different afferent submodalities. In theory, each submodality could redundantly represent all movement parameters, or, alternatively, different afferent submodalities could be tuned to distinctly different movement parameters. The study described in this paper investigated how skin input and muscle input each contributes to movement sense of the hand, in particular, to the movement parameters dynamic position and velocity. Healthy adult subjects were instructed to indicate with the left hand when they sensed the unseen fingers of the right hand being passively flexed at the metacarpophalangeal (MCP) joint through a previously learned target angle. The experimental approach was to suppress input from skin and/or muscle: skin input by anesthetizing the hand, and muscle input by unexpectedly extending the wrist to prevent MCP flexion from stretching the finger extensor muscle. Input from joint afferents was assumed not to play a significant role because the task was carried out with the MCP joints near their neutral positions. We found that, during passive finger movement near the neutral position in healthy adult humans, both skin and muscle receptors contribute to movement sense but qualitatively differently. Whereas skin input contributes to both dynamic position and velocity sense, muscle input may contribute only to velocity sense.

scholarly journals Relationship between Joint Position Sense, Force Sense, and Muscle Strength and the Impact of Gymnastic Training on Proprioception

2018 ◽  
Vol 2018 ◽  
pp. 1-10 ◽  
Author(s):  
Bartłomiej Niespodziński ◽  
Andrzej Kochanowicz ◽  
Jan Mieszkowski ◽  
Elżbieta Piskorska ◽  
Małgorzata Żychowska
Keyword(s):  
Muscle Strength ◽  
Elbow Joint ◽  
Position Sense ◽  
Joint Position Sense ◽  
Control Group ◽  
Joint Position ◽  
The Impact ◽  
The Relationship ◽  
Force Sense

The aims of this study were (1) to assess the relationship between joint position (JPS) and force sense (FS) and muscle strength (MS) and (2) to evaluate the impact of long-term gymnastic training on particular proprioception aspects and their correlations. 17 elite adult gymnasts and 24 untrained, matched controls performed an active reproduction (AR) and passive reproduction (PR) task and a force reproduction (FR) task at the elbow joint. Intergroup differences and the relationship between JPS, FS, and MS were evaluated. While there was no difference in AR or PR between groups, absolute error in the control group was higher during the PR task (7.15 ± 2.72°) than during the AR task (3.1 ± 1.93°). Mean relative error in the control group was 61% higher in the elbow extensors than in the elbow flexors during 50% FR, while the gymnast group had similar results in both reciprocal muscles. There was no linear correlation between JPS and FS in either group; however, FR was negatively correlated with antagonist MS. In conclusion, this study found no evidence for a relationship between the accuracy of FS and JPS at the elbow joint. Long-term gymnastic training improves the JPS and FS of the elbow extensors.

Role of intramuscular receptors in the awareness of limb position

1985 ◽  
Vol 54 (6) ◽  
pp. 1529-1540 ◽  
Author(s):  
F. J. Clark ◽  
R. C. Burgess ◽  
J. W. Chapin ◽  
W. T. Lipscomb
Keyword(s):  
Common Peroneal Nerve ◽  
Joint Space ◽  
Position Sense ◽  
Joint Rotation ◽  
Limb Position ◽  
The Subject ◽  
The Common ◽  
Movement Sense ◽  
Ankle Dorsiflexor

We studied proprioception with the ankle joint and the metacarpophalangeal (MCP) joint of the index finger of humans by use of a method that could distinguish a position sense from a movement sense. The test measured how subjects' ability to detect a fixed displacement of a joint varied with the rate of joint rotation. A position sense should not depend on the speed of joint placement; therefore slow rates of movement should not degrade subjects' ability to sense joint displacements. However, in the absence of a position sense, subjects would presumably rely on movement signals that do depend on the rate of rotation, and their ability to detect displacements should decrease when rate decreases. Subjects could sense small displacements of the ankle (+/- 3.5 degrees) and the MCP joint (+/- 2.5 degrees lateral excursions) with no decrement in performance at speeds as low as 0.25 degrees/min for the ankle and 0.5 degrees/min for the MCP joint (the slowest tested thus far). The findings confirm the existence of a position sense with these joints. Block of the ulnar nerve at the wrist, which paralyzes the interosseous muscles that adduct and abduct the MCP joint but presumably leaves skin and joint mechanisms unaffected, substantially impaired subjects' ability to detect the lateral excursions at slow speeds. Performance fell sharply at speeds less than 128 degrees/min and leveled off at approximately 20% detections at speeds less than 4 degrees/min. Increasing displacement to +/- 7 degrees did not improve performance. Block of the common peroneal nerve at the knee, which paralyzes the ankle dorsiflexor muscles, substantially impaired subjects' ability to detect the +/- 3.5 degrees displacements at slow speeds when the foot was positioned to slacken the plantarflexion muscles (which were not affected by the block). Performance fell sharply at speeds less than 256 degrees/min and approached zero at speeds less than 16 degrees/min. However, positioning the foot to stretch the plantarflexor muscles restored subjects' performance to near normal. Local anesthetic injected into the MCP joint space produced no observable effect on the ability to detect either slow or fast excursions. The joint anesthesia went unnoticed by the subject. We conclude that independent and separable senses exist for limb position and limb movement and that normal position sense requires sensory inputs from the muscles.

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