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Phenotype- and genotype-specific structural alterations in spasmodic dysphonia.

Serena Bianchi¹, Giovanni Battistella¹, Hailey Huddleston¹

¹Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

Movement Disorders : Official Journal of the Movement Disorder Society

|February 11, 2017

Summary

Structural brain differences in spasmodic dysphonia (SD) are linked to specific patient types. Imaging reveals distinct cortical and white matter changes in adductor vs. abductor SD and familial vs. sporadic cases.

Keywords:

cortical thickness diffusion-weighted imaging genetics laryngeal dystonia

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Area of Science:

Neuroscience
Neurology
Medical Imaging

Background:

Spasmodic dysphonia (SD) is a focal dystonia causing involuntary laryngeal muscle spasms during speech.
The exact cause of SD is unknown, with hereditary factors in up to 16% of cases.
Understanding how different SD phenotypes and genotypes affect pathophysiology is crucial.

Purpose of the Study:

To investigate structural brain changes in cortical gray matter and white matter integrity in SD.
To correlate these structural alterations with distinct SD phenotypes (adductor vs. abductor) and genotypes (sporadic vs. familial).
To elucidate the structural basis of SD pathophysiology.

Main Methods:

High-resolution magnetic resonance imaging (MRI) and diffusion-weighted imaging (DWI) were used.
Eighty-nine SD patients were analyzed.
Cortical thickness and white matter fractional anisotropy were examined in relation to phenotype and genotype.

Main Results:

Phenotype-specific abnormalities were found in the left sensorimotor cortex, left angular gyrus, and right superior corona radiata white matter.
Genotype-specific alterations were identified in the left superior temporal gyrus, supplementary motor area, and left superior longitudinal fasciculus.

Conclusions:

Phenotypic variations in SD are associated with differences in motor control areas.
Genotype-related mechanisms may involve dysfunction in phonological and sensory processing regions.
Identifying these specific structural alterations aids in developing imaging markers and therapeutic targets for SD.