ADCY5-Mosaic Variants: A Diagnosis Not to Be Missed.

IF 2.7 4区医学 Q2 CLINICAL NEUROLOGY

Movement Disorders Clinical Practice Pub Date : 2025-06-12 DOI:10.1002/mdc3.70175

Alice Innocenti, Emmanuel Roze, Florence Riant, Marie-Céline François-Heude, Bérénice Lecardonnel, Giacomo Garone, Maxime Colmard, Eline Chauvet-Piat, Anne-Cécile Chaux, Marie-Aude Spitz, Beatrice Desnous, Catherine Sarret, Philippe Damier, Thomas Wirth, Mathieu Anheim, Emilie Retailleau, Estelle Conabady, Caroline Dubacq, Oriane Trouillard, Aurélie Méneret, Agathe Roubertie

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引用次数: 0

Abstract

Background: An increasing number of ADCY5-mosaic patients, seemingly with a milder phenotype, are being identified. However, an in-depth assessment of their clinical characteristics is lacking.

Cases: We collected and analyzed data from 12 consecutive ADCY5-mosaic patients diagnosed at our center and 7 cases from the literature; 63% of the patients presented with a baseline hyperkinetic motor disorder with paroxysmal motor exacerbations; 30% had isolated paroxysmal dyskinesias (PxD). Caffeine treatment was highly effective. Developmental delay was observed in 5 patients and especially in those with persistent motor symptoms. PxD were the initial motor symptom in 70% of cases.

Conclusions: ADCY5-mosaic carriers may have the same phenotypic spectrum as non-mosaic carriers but with a milder clinical presentation. Isolated PxD with onset in infancy are a red flag for ADCY5-mosaic variants. Particular attention should be paid when genetic analysis of patients with this phenotype is conducted as mosaicism can be easily missed.

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adcy5镶嵌变异：一个不容错过的诊断。

背景：越来越多的adcy5嵌合患者，似乎具有较温和的表型，正在被发现。然而，缺乏对其临床特征的深入评估。病例：我们收集并分析了12例在本中心诊断的adcy5 -马赛克患者和7例文献资料；63%的患者表现为伴有阵发性运动加重的基线多动运动障碍；30%有孤立的阵发性运动障碍（PxD）。咖啡因治疗非常有效。5例患者出现发育迟缓，尤其是有持续性运动症状的患者。PxD为70%病例的初始运动症状。结论：adcy5嵌合型携带者可能与非嵌合型携带者具有相同的表型谱，但临床表现较轻。婴儿期发病的孤立PxD是adcy5嵌合变异的危险信号。在对具有这种表型的患者进行遗传分析时应特别注意，因为嵌合现象很容易被遗漏。

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

Movement Disorders Clinical Practice CLINICAL NEUROLOGY-

CiteScore

4.00

自引率

7.50%

发文量

218

期刊介绍： Movement Disorders Clinical Practice- is an online-only journal committed to publishing high quality peer reviewed articles related to clinical aspects of movement disorders which broadly include phenomenology (interesting case/case series/rarities), investigative (for e.g- genetics, imaging), translational (phenotype-genotype or other) and treatment aspects (clinical guidelines, diagnostic and treatment algorithms)