ACTB -Related Dystonia-Deafness Syndrome with Functional Imaging Correlates: A Case Report.

IF 1.8 4区医学 Q3 CLINICAL NEUROLOGY

Annals of Indian Academy of Neurology Pub Date : 2026-09-01 Epub Date: 2026-10-12 DOI:10.4103/aian.aian_334_26

Dolly Agrawal, Rohit Kushwah, Hemant Luniwal, Sarbesh Tiwari, Deepanksha Datta, Samhita Panda

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引用次数: 0

Abstract

Abstract: Dystonia-deafness syndrome (DDS) is a rare neurogenetic disorder with congenital sensorineural hearing loss and progressive dystonia linked to ACTB mutations. A 22-year-old man with congenital deafness and speech impairment presented with adolescent-onset tremors evolving to generalized dystonia, titubation, and gait disturbances. Magnetic resonance imaging of the brain was unremarkable. Fluorodeoxyglucose-positron emission tomography showed basal ganglia hypometabolism, with severely reduced uptake in the right putamen and caudate on Technetium-99m labeled TRODAT-1 Single Photon Emission Computed Tomography (TRODAT SPECT) imaging. A heterozygous pathogenic missense variant in ACTB gene (c.547C>T; p.Arg183Trp) with an additional heterozygous variant in VPS16 (c.1612C>A; p.Leu538Met) was identified. The ACTB variant explains core DDS features, whereas the coexisting VPS16 variant represents an additional finding of uncertain clinical significance. This case highlights the functional imaging abnormalities in ACTB -related DDS and emphasizes the value of multimodal imaging in the evaluation of genetically confirmed complex dystonia.

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ACTB相关性肌张力障碍-耳聋综合征与功能影像学相关：1例报告。

摘要：肌张力障碍-耳聋综合征（DDS）是一种罕见的神经遗传性疾病，伴有先天性感音神经性听力损失和进行性肌张力障碍，与ACTB突变有关。一个22岁的先天性耳聋和语言障碍的男性表现为青春期发作的震颤，发展为全身性肌障碍、颤抖和步态障碍。大脑的磁共振成像没有什么特别之处。氟脱氧葡萄糖正电子发射断层扫描显示基底节区代谢低下，在锝-99m标记的TRODAT-1单光子发射计算机断层扫描（TRODAT SPECT）成像上，右侧壳核和尾状核的摄取严重减少。在ACTB基因（c.547C>T; p.Arg183Trp）和VPS16基因（c.1612C >a; p.Leu538Met）中鉴定出一个杂合致病性错义变异。ACTB变异解释了DDS的核心特征，而共存的VPS16变异代表了一个不确定临床意义的额外发现。本病例强调了ACTB相关DDS的功能影像学异常，并强调了多模态影像学在评估遗传证实的复杂肌张力障碍中的价值。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Annals of Indian Academy of Neurology Nervous System Diseases-

CiteScore

2.20

自引率

11.80%

发文量

293

审稿时长

29 weeks

期刊介绍： The journal has a clinical foundation and has been utilized most by clinical neurologists for improving the practice of neurology. While the focus is on neurology in India, the journal publishes manuscripts of high value from all parts of the world. Journal publishes reviews of various types, original articles, short communications, interesting images and case reports. The journal respects the scientific submission of its authors and believes in following an expeditious double-blind peer review process and endeavors to complete the review process within scheduled time frame. A significant effort from the author and the journal perhaps enables to strike an equilibrium to meet the professional expectations of the peers in the world of scientific publication. AIAN believes in safeguarding the privacy rights of human subjects. In order to comply with it, the journal instructs all authors when uploading the manuscript to also add the ethical clearance (human/animals)/ informed consent of subject in the manuscript. This applies to the study/case report that involves animal/human subjects/human specimens e.g. extracted tooth part/soft tissue for biopsy/in vitro analysis.