Tremor-Dominant Movement Disorder in ANKRD11- Associated KBG Syndrome.

IF 2.5 Q2 CLINICAL NEUROLOGY

Tremor and Other Hyperkinetic Movements Pub Date : 2024-09-25 eCollection Date: 2024-01-01 DOI:10.5334/tohm.926

Antonia M Stehr, Thomas Koeglsperger, Maureen Jacob, Valerio Rhodio, Juliane Winkelmann, Franziska Hopfner, Michael Zech

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Abstract

Background: KBG syndrome is a monogenic disorder caused by heterozygous pathogenic variants in ANKRD11. A recent single-case study suggested that the clinical spectrum of KBG syndrome, classically defined by distinctive craniofacial traits and developmental delay, may include movement disorders.

Case report: We report a 24-year-old patient harboring a pathogenic de novo ANKRD11 frameshift variant. The phenotype was dominated by a progressive tremor-dominant movement disorder, characterized by rest, intention and postural tremor of the hands, voice tremor, head and tongue tremor, increased muscle tone and signs of ataxia. Additionally, the patient had a history of mild developmental delay and epilepsy.

Discussion: Adding to the recently described individual, our present patient highlights the relevance of movement disorders as a clinically relevant manifestation of KBG syndrome. ANKRD11 pathogenic variants should be considered in the differential diagnosis of combined tremor syndromes.

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与 ANKRD11 相关的 KBG 综合征中的震颤为主的运动障碍。

背景：KBG综合征是一种由ANKRD11杂合子致病变异引起的单基因疾病。最近的一项单病例研究表明，KBG 综合征的临床谱系（经典定义为独特的颅面特征和发育迟缓）可能包括运动障碍：我们报告了一名 24 岁患者的病理变化，该患者携带一个新的 ANKRD11 框移变异基因。表型以进行性震颤为主的运动障碍为主要特征，表现为手部静止性、意向性和姿势性震颤、语音震颤、头和舌震颤、肌张力增高和共济失调。此外，患者还有轻度发育迟缓和癫痫病史：讨论：除了最近描述的患者外，本例患者还强调了运动障碍作为 KBG 综合征临床表现的相关性。在合并震颤综合征的鉴别诊断中应考虑 ANKRD11 致病变体。

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

Tremor and Other Hyperkinetic Movements CLINICAL NEUROLOGY-

CiteScore

4.00

自引率

4.50%

发文量

审稿时长

6 weeks