Evidence map›Paper›PMID 40265962›Full record

ArticleMovement disorders clinical practice2025

The Vodka Trial: Clinical and Genetic Characteristics of Alcohol Responsiveness in Laryngeal Dystonia.

Lena C O'Flynn, Aloysius Domingo, Azadeh Hamzehei Sichani, Ayumi Nishiyama, Madison Hincher, Rachita Yadav, Laurie J Ozelius, Kristina Simonyan

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In one paragraph

Article in Movement disorders clinical practice, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Lena C O'FlynnDepartment of Otolaryngology-Head and Neck Surgery, Massachusetts Eye and Ear and Harvard Medical School, Boston, Massachusetts, USA.ORCID https://orcid.org/0000-0001-6368-0793
Aloysius DomingoCenter for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
Azadeh Hamzehei SichaniDepartment of Otolaryngology-Head and Neck Surgery, Massachusetts Eye and Ear and Harvard Medical School, Boston, Massachusetts, USA.
Ayumi NishiyamaDepartment of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.
Madison HincherDepartment of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.
Rachita YadavCenter for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
Laurie J OzeliusDepartment of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.
Kristina SimonyanDepartment of Otolaryngology-Head and Neck Surgery, Massachusetts Eye and Ear and Harvard Medical School, Boston, Massachusetts, USA.ORCID https://orcid.org/0000-0001-7444-0437

Funding

Imaging genetics of spasmodic dysphoniaR01DC011805 · NIDCD · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Kristina Simonyan · 2012 to 2026
$8.8M
Voice tremor in spasmodic dysphonia: central mechanisms and treatment responseR01DC012545 · NIDCD · MASSACHUSETTS EYE AND EAR INFIRMARY · PI SIMONYAN, KRISTINA · 2012 to 2021
$5.2M
NIDCD NIH HHS R01 DC011805NIDCD NIH HHS R01 DC012545NIH HHS R01DC011805NIH HHS R01DC012545
6 · The paper itself

Abstract

backgroundLaryngeal dystonia (LD) is isolated task-specific focal dystonia, predominantly impairing speech production. Clinical observations and population survey studies have reported that up to 58% of patients with LD may have symptom improvement following alcohol intake.

objectivesTo determine the objective characteristics of alcohol responsiveness in LD using a standardized alcohol challenge test and genetic testing.

methodsA total of 109 patients with isolated focal LD participated in the study. Patients were administered two non-diluted drinks of 40-proof vodka 30 min apart, followed by assessments of voice symptoms, breath alcohol content, and side effects. Patients were considered alcohol-responsive (EtOH+) if their symptoms changed by ≥10% from baseline. Whole-exome sequencing was performed to identify genetic variants associated with the alcohol responsiveness of LD.

resultsAll patients tolerated the standardized alcohol challenge test without major adverse events. Fifty-two patients (47.7%) had an average of 44.4 ± 25.0% improvement of LD symptoms about 45 min after alcohol intake. Five genetic variants in GABAergic pathway-related genes were enriched in EtOH+ patients, and two of these, rs11644926 (ADCY7) and rs2230741 (ADCY9), were associated with the improvement of dystonic voice symptoms.

conclusionsAlcohol responsiveness of LD symptoms is a robust feature related to the genes regulating the GABAergic synapses. This finding provides support for the evaluation of novel oral medications with mechanisms of action similar to alcohol for the treatment of patients with alcohol-responsive dystonia.

Indexed as

Dystonic DisordersEthanolLaryngeal DiseasesAdultAgedFemaleHumansMaleMiddle AgedEthanolalcoholdystoniagenetics

Identifiers

PMID40265962
PMCPMC12481450

What Socratic holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.