Phenotype- and genotype-specific structural alterations in spasmodic dysphonia

Bianchi, Serena, Battistella, Giovanni, Huddleston, Hailey, Scharf, Rebecca, Fleysher, Lazar, Rumbach, Anna F. , Frucht, Steven J. , Blitzer, Andrew, Ozelius, Laurie J. and Simonyan, Kristina (2017) Phenotype- and genotype-specific structural alterations in spasmodic dysphonia. Movement Disorders, 32 4: 560-568. doi:10.1002/mds.26920

Author Bianchi, Serena
Battistella, Giovanni
Huddleston, Hailey
Scharf, Rebecca
Fleysher, Lazar
Rumbach, Anna F.
Frucht, Steven J.
Blitzer, Andrew
Ozelius, Laurie J.
Simonyan, Kristina
Title Phenotype- and genotype-specific structural alterations in spasmodic dysphonia
Journal name Movement Disorders   Check publisher's open access policy
ISSN 1531-8257
Publication date 2017-02-10
Sub-type Article (original research)
DOI 10.1002/mds.26920
Open Access Status Not yet assessed
Volume 32
Issue 4
Start page 560
End page 568
Total pages 9
Place of publication Hoboken, NJ, United States
Publisher John Wiley & Sons
Collection year 2018
Language eng
Formatted abstract
Background: Spasmodic dysphonia is a focal dystonia characterized by involuntary spasms in the laryngeal muscles that occur selectively during speaking. Although hereditary trends have been reported in up to 16% of patients, the causative etiology of spasmodic dysphonia is unclear, and the influences of various phenotypes and genotypes on disorder pathophysiology are poorly understood. In this study, we examined structural alterations in cortical gray matter and white matter integrity in relationship to different phenotypes and putative genotypes of spasmodic dysphonia to elucidate the structural component of its complex pathophysiology.

Methods: Eighty-nine patients with spasmodic dysphonia underwent high-resolution magnetic resonance imaging and diffusion-weighted imaging to examine cortical thickness and white matter fractional anisotropy in adductor versus abductor forms (distinct phenotypes) and in sporadic versus familial cases (distinct genotypes).

Results: Phenotype-specific abnormalities were localized in the left sensorimotor cortex and angular gyrus and the white matter bundle of the right superior corona radiata. Genotype-specific alterations were found in the left superior temporal gyrus, supplementary motor area, and the arcuate portion of the left superior longitudinal fasciculus.

Conclusions: Our findings suggest that phenotypic differences in spasmodic dysphonia arise at the level of the primary and associative areas of motor control, whereas genotype-related pathophysiological mechanisms may be associated with dysfunction of regions regulating phonological and sensory processing. Identification of structural alterations specific to disorder phenotype and putative genotype provides an important step toward future delineation of imaging markers and potential targets for novel therapeutic interventions for spasmodic dysphonia.
Keyword Cortical thickness
Diffusion-weighted imaging
Laryngeal dystonia
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
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School of Health and Rehabilitation Sciences Publications
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