PuSH - Publication Server of Helmholtz Zentrum München: ACTB-associated dystonia-deafness syndrome with good response to DBS GPi revisited.

Information

Clues to quality of journals

Open Access Policy of Helmholtz Association 2016

CC Licencences

Publication Metrics

Navigation

Home

Deutsch

EVA: Electronic Publishing

New EVA Application

Research

Advanced Search

Browse by ...

... HMGU-Authors/Consortia

... Organizational Structure

... Journal

... Publication Type

... Research Data

... Arbeitsgruppen

... Publication Year

Publication overview

Statistics

Statistics (last 5 years)

OA Publications

Publish

Submit Publication

Import publication from...

...EVA

Report missing publication

Highlights

Support & Contact

Contact persons

Help

Data protection

Helmholtz Open Science

JANE Journal Estimator

SHERPA/RoMEO

DOAJ

Export:

Text

Endnote (RIS) BIB

BibTeX

Kasprzak, J.* ; Dulski, J.* ; Schinwelski, M.* ; Krygier, M.* ; Zech, M. ; Sławek, J.*

ACTB-associated dystonia-deafness syndrome with good response to DBS GPi revisited.

Clin. Parkinsonism Relat. Disord. 13, 4:100406 (2025)

Publ. Version/Full Text

Research data

DOI

PMC

	Open Access Gold

Abstract
Metrics
Extra information

INTRODUCTION: Dystonia-deafness syndrome is a rare disorder characterized by dystonia with sensorineural hearing impairment. While various genetic causes have been identified, many cases remain unexplained. Deep brain stimulation of the globus pallidus internus is an established treatment for dystonia, but outcomes vary depending on the underlying cause. METHODS: We conducted a long-term follow-up of a 31-year-old male diagnosed with DDS, initially reported in 2016. RESULTS: The patient exhibited progressive generalized dystonia and sensorineural hearing loss. At the age of 19, bilateral DBS-GPi implantation was performed, resulting in sustained symptom improvement until the age of 25. However, progressive worsening of dystonia led to the initiation of adjunctive botulinum toxin therapy, which initially provided symptom relief. At the age of 26, disruption of a DBS extension wire caused acute symptom exacerbation, necessitating surgical replacement. Further clinical deterioration was exacerbated by a hardware-related infection, leading to surgical removal of the left DBS system at the age of 30, which prompted placement of a percutaneous endoscopic gastrostomy. At the age of 31, the right-sided DBS system was also removed. Bilateral reimplantation of the DBS-GPi system was performed at the age of 31. Trio exome sequencing identified a de novo heterozygous pathogenic ACTB variant, p.Arg183Trp. CONCLUSION: This case highlights both the benefits and limitations of DBS in ACTB-associated dystonia. While this mutation may predict DBS efficacy, long-term outcomes are influenced by disease progression, hardware complications, and systemic factors. Further research is needed to establish ACTB variants as predictive markers for DBS responsiveness.

Impact Factor

Scopus SNIP

Altmetric

0.000