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
{"title":"adcy5镶嵌变异：一个不容错过的诊断。","authors":"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","doi":"10.1002/mdc3.70175","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Cases: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.7000,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"ADCY5-Mosaic Variants: A Diagnosis Not to Be Missed.\",\"authors\":\"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\",\"doi\":\"10.1002/mdc3.70175\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>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.</p><p><strong>Cases: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>\",\"PeriodicalId\":19029,\"journal\":{\"name\":\"Movement Disorders Clinical Practice\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.7000,\"publicationDate\":\"2025-06-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Movement Disorders Clinical Practice\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/mdc3.70175\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Movement Disorders Clinical Practice","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/mdc3.70175","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
ADCY5-Mosaic Variants: A Diagnosis Not to Be Missed.
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.
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)
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