ArticleNeurology2015
ADCY5 mutations are another cause of benign hereditary chorea.
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Article in Neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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39 citing papers in PubMed, 90 citations in OpenAlex.
- Unraveling the genetic architecture of non-Huntington chorea: a biobank-scale study of rare variants and repeat expansions.NPJ genomic medicine · 2026Article
- ADCY5-Mosaic Variants: A Diagnosis Not to Be Missed.Movement disorders clinical practice · 2025Article
- Update on Genetic Chorea.European journal of neurology · 2025Review
- The clinical and genetic spectrum of paediatric speech and language disorders.Brain : a journal of neurology · 2025Article
- Decoding GNAO1 mutations usingFrontiers in cellular neuroscience · 2025Review
- Exploring the Genetic Landscape of Chorea in Infancy and Early Childhood: Implications for Diagnosis and Treatment.Current issues in molecular biology · 2024Review
- The clinical and genetic spectrum of paediatric speech and language disorders in 52,143 individuals.medRxiv : the preprint server for health sciences · 2024Article
- Scoping Review on ADCY5-Related Movement Disorders.Movement disorders clinical practice · 2023Article
- Improvement ofMovement disorders clinical practice · 2023Article
- Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations.Neurogenetics · 2022Article
- The Emerging Role of Phosphodiesterases in Movement Disorders.Movement disorders : official journal of the Movement Disorder Society · 2021Review
- Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Challenges in Clinicogenetic Correlations: One Gene - Many Phenotypes.Movement disorders clinical practice · 2021Review
- Phenotypes ofFrontiers in neurology · 2021Article
- Chorea in children: etiology, diagnostic approach and management.Journal of neural transmission (Vienna, Austria : 1996) · 2020Review
- Review of Hereditary and Acquired Rare Choreas.Tremor and other hyperkinetic movements (New York, N.Y.) · 2020Review
- Some New and Unexpected Tauopathies in Movement Disorders.Movement disorders clinical practice · 2020Article
- ADCY5-Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder.Movement disorders clinical practice · 2019Review
- Sleep inJournal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2019Article
- Is Benign Hereditary Chorea Really Benign? Brain-Lung-Thyroid Syndrome Caused byMovement disorders clinical practice · 2019Article
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Authors and funding
12 authors at 4 institutions in 2 countries.
Niccolo E MencacciFrom the Department of Molecular Neuroscience (N.E.M., S.W., J.H., M.R., H.H., N.W.W.) and Sobell Department of Motor Neuroscience and Movement Disorders (R.E., B.B., C.G., M.S., N.Q., K.P.B.), UCL Institute of Neurology, London, UK; IRCCS Istituto Auxologico Italiano (N.E.M.), Department of Neurology and Laboratory of Neuroscience-Department of Pathophysiology and Transplantation, "Dino Ferrari" Centre, Università degli Studi di Milano; Dipartimento di Scienze Neurologiche e del Movimento (R.E.), Università di Verona, Italy; Department of Neurology (B.B.), University Hospital Heidelberg; Department of Neurology (C.G.), University Medical Centre Hamburg-Eppendorf, Hamburg, Germany; Neurology Clinic (M.S.), Attiko Hospital, University of Athens; and Movement Disorders Department (M.S.), Hygeia Hospital, Athens, Greece.
Roberto ErroFrom the Department of Molecular Neuroscience (N.E.M., S.W., J.H., M.R., H.H., N.W.W.) and Sobell Department of Motor Neuroscience and Movement Disorders (R.E., B.B., C.G., M.S., N.Q., K.P.B.), UCL Institute of Neurology, London, UK; IRCCS Istituto Auxologico Italiano (N.E.M.), Department of Neurology and Laboratory of Neuroscience-Department of Pathophysiology and Transplantation, "Dino Ferrari" Centre, Università degli Studi di Milano; Dipartimento di Scienze Neurologiche e del Movimento (R.E.), Università di Verona, Italy; Department of Neurology (B.B.), University Hospital Heidelberg; Department of Neurology (C.G.), University Medical Centre Hamburg-Eppendorf, Hamburg, Germany; Neurology Clinic (M.S.), Attiko Hospital, University of Athens; and Movement Disorders Department (M.S.), Hygeia Hospital, Athens, Greece. r.erro@ucl.ac.uk.
Sarah WiethoffFrom the Department of Molecular Neuroscience (N.E.M., S.W., J.H., M.R., H.H., N.W.W.) and Sobell Department of Motor Neuroscience and Movement Disorders (R.E., B.B., C.G., M.S., N.Q., K.P.B.), UCL Institute of Neurology, London, UK; IRCCS Istituto Auxologico Italiano (N.E.M.), Department of Neurology and Laboratory of Neuroscience-Department of Pathophysiology and Transplantation, "Dino Ferrari" Centre, Università degli Studi di Milano; Dipartimento di Scienze Neurologiche e del Movimento (R.E.), Università di Verona, Italy; Department of Neurology (B.B.), University Hospital Heidelberg; Department of Neurology (C.G.), University Medical Centre Hamburg-Eppendorf, Hamburg, Germany; Neurology Clinic (M.S.), Attiko Hospital, University of Athens; and Movement Disorders Department (M.S.), Hygeia Hospital, Athens, Greece.
Joshua HershesonFrom the Department of Molecular Neuroscience (N.E.M., S.W., J.H., M.R., H.H., N.W.W.) and Sobell Department of Motor Neuroscience and Movement Disorders (R.E., B.B., C.G., M.S., N.Q., K.P.B.), UCL Institute of Neurology, London, UK; IRCCS Istituto Auxologico Italiano (N.E.M.), Department of Neurology and Laboratory of Neuroscience-Department of Pathophysiology and Transplantation, "Dino Ferrari" Centre, Università degli Studi di Milano; Dipartimento di Scienze Neurologiche e del Movimento (R.E.), Università di Verona, Italy; Department of Neurology (B.B.), University Hospital Heidelberg; Department of Neurology (C.G.), University Medical Centre Hamburg-Eppendorf, Hamburg, Germany; Neurology Clinic (M.S.), Attiko Hospital, University of Athens; and Movement Disorders Department (M.S.), Hygeia Hospital, Athens, Greece.
Mina RytenFrom the Department of Molecular Neuroscience (N.E.M., S.W., J.H., M.R., H.H., N.W.W.) and Sobell Department of Motor Neuroscience and Movement Disorders (R.E., B.B., C.G., M.S., N.Q., K.P.B.), UCL Institute of Neurology, London, UK; IRCCS Istituto Auxologico Italiano (N.E.M.), Department of Neurology and Laboratory of Neuroscience-Department of Pathophysiology and Transplantation, "Dino Ferrari" Centre, Università degli Studi di Milano; Dipartimento di Scienze Neurologiche e del Movimento (R.E.), Università di Verona, Italy; Department of Neurology (B.B.), University Hospital Heidelberg; Department of Neurology (C.G.), University Medical Centre Hamburg-Eppendorf, Hamburg, Germany; Neurology Clinic (M.S.), Attiko Hospital, University of Athens; and Movement Disorders Department (M.S.), Hygeia Hospital, Athens, Greece.
Bettina BalintFrom the Department of Molecular Neuroscience (N.E.M., S.W., J.H., M.R., H.H., N.W.W.) and Sobell Department of Motor Neuroscience and Movement Disorders (R.E., B.B., C.G., M.S., N.Q., K.P.B.), UCL Institute of Neurology, London, UK; IRCCS Istituto Auxologico Italiano (N.E.M.), Department of Neurology and Laboratory of Neuroscience-Department of Pathophysiology and Transplantation, "Dino Ferrari" Centre, Università degli Studi di Milano; Dipartimento di Scienze Neurologiche e del Movimento (R.E.), Università di Verona, Italy; Department of Neurology (B.B.), University Hospital Heidelberg; Department of Neurology (C.G.), University Medical Centre Hamburg-Eppendorf, Hamburg, Germany; Neurology Clinic (M.S.), Attiko Hospital, University of Athens; and Movement Disorders Department (M.S.), Hygeia Hospital, Athens, Greece.
Christos GanosFrom the Department of Molecular Neuroscience (N.E.M., S.W., J.H., M.R., H.H., N.W.W.) and Sobell Department of Motor Neuroscience and Movement Disorders (R.E., B.B., C.G., M.S., N.Q., K.P.B.), UCL Institute of Neurology, London, UK; IRCCS Istituto Auxologico Italiano (N.E.M.), Department of Neurology and Laboratory of Neuroscience-Department of Pathophysiology and Transplantation, "Dino Ferrari" Centre, Università degli Studi di Milano; Dipartimento di Scienze Neurologiche e del Movimento (R.E.), Università di Verona, Italy; Department of Neurology (B.B.), University Hospital Heidelberg; Department of Neurology (C.G.), University Medical Centre Hamburg-Eppendorf, Hamburg, Germany; Neurology Clinic (M.S.), Attiko Hospital, University of Athens; and Movement Disorders Department (M.S.), Hygeia Hospital, Athens, Greece.
Maria StamelouFrom the Department of Molecular Neuroscience (N.E.M., S.W., J.H., M.R., H.H., N.W.W.) and Sobell Department of Motor Neuroscience and Movement Disorders (R.E., B.B., C.G., M.S., N.Q., K.P.B.), UCL Institute of Neurology, London, UK; IRCCS Istituto Auxologico Italiano (N.E.M.), Department of Neurology and Laboratory of Neuroscience-Department of Pathophysiology and Transplantation, "Dino Ferrari" Centre, Università degli Studi di Milano; Dipartimento di Scienze Neurologiche e del Movimento (R.E.), Università di Verona, Italy; Department of Neurology (B.B.), University Hospital Heidelberg; Department of Neurology (C.G.), University Medical Centre Hamburg-Eppendorf, Hamburg, Germany; Neurology Clinic (M.S.), Attiko Hospital, University of Athens; and Movement Disorders Department (M.S.), Hygeia Hospital, Athens, Greece.
Niall QuinnFrom the Department of Molecular Neuroscience (N.E.M., S.W., J.H., M.R., H.H., N.W.W.) and Sobell Department of Motor Neuroscience and Movement Disorders (R.E., B.B., C.G., M.S., N.Q., K.P.B.), UCL Institute of Neurology, London, UK; IRCCS Istituto Auxologico Italiano (N.E.M.), Department of Neurology and Laboratory of Neuroscience-Department of Pathophysiology and Transplantation, "Dino Ferrari" Centre, Università degli Studi di Milano; Dipartimento di Scienze Neurologiche e del Movimento (R.E.), Università di Verona, Italy; Department of Neurology (B.B.), University Hospital Heidelberg; Department of Neurology (C.G.), University Medical Centre Hamburg-Eppendorf, Hamburg, Germany; Neurology Clinic (M.S.), Attiko Hospital, University of Athens; and Movement Disorders Department (M.S.), Hygeia Hospital, Athens, Greece.
Henry HouldenFrom the Department of Molecular Neuroscience (N.E.M., S.W., J.H., M.R., H.H., N.W.W.) and Sobell Department of Motor Neuroscience and Movement Disorders (R.E., B.B., C.G., M.S., N.Q., K.P.B.), UCL Institute of Neurology, London, UK; IRCCS Istituto Auxologico Italiano (N.E.M.), Department of Neurology and Laboratory of Neuroscience-Department of Pathophysiology and Transplantation, "Dino Ferrari" Centre, Università degli Studi di Milano; Dipartimento di Scienze Neurologiche e del Movimento (R.E.), Università di Verona, Italy; Department of Neurology (B.B.), University Hospital Heidelberg; Department of Neurology (C.G.), University Medical Centre Hamburg-Eppendorf, Hamburg, Germany; Neurology Clinic (M.S.), Attiko Hospital, University of Athens; and Movement Disorders Department (M.S.), Hygeia Hospital, Athens, Greece.
Nicholas W WoodFrom the Department of Molecular Neuroscience (N.E.M., S.W., J.H., M.R., H.H., N.W.W.) and Sobell Department of Motor Neuroscience and Movement Disorders (R.E., B.B., C.G., M.S., N.Q., K.P.B.), UCL Institute of Neurology, London, UK; IRCCS Istituto Auxologico Italiano (N.E.M.), Department of Neurology and Laboratory of Neuroscience-Department of Pathophysiology and Transplantation, "Dino Ferrari" Centre, Università degli Studi di Milano; Dipartimento di Scienze Neurologiche e del Movimento (R.E.), Università di Verona, Italy; Department of Neurology (B.B.), University Hospital Heidelberg; Department of Neurology (C.G.), University Medical Centre Hamburg-Eppendorf, Hamburg, Germany; Neurology Clinic (M.S.), Attiko Hospital, University of Athens; and Movement Disorders Department (M.S.), Hygeia Hospital, Athens, Greece.
Kailash P BhatiaFrom the Department of Molecular Neuroscience (N.E.M., S.W., J.H., M.R., H.H., N.W.W.) and Sobell Department of Motor Neuroscience and Movement Disorders (R.E., B.B., C.G., M.S., N.Q., K.P.B.), UCL Institute of Neurology, London, UK; IRCCS Istituto Auxologico Italiano (N.E.M.), Department of Neurology and Laboratory of Neuroscience-Department of Pathophysiology and Transplantation, "Dino Ferrari" Centre, Università degli Studi di Milano; Dipartimento di Scienze Neurologiche e del Movimento (R.E.), Università di Verona, Italy; Department of Neurology (B.B.), University Hospital Heidelberg; Department of Neurology (C.G.), University Medical Centre Hamburg-Eppendorf, Hamburg, Germany; Neurology Clinic (M.S.), Attiko Hospital, University of Athens; and Movement Disorders Department (M.S.), Hygeia Hospital, Athens, Greece.
Athens State University · USUniversity Hospital Heidelberg · DEUniversität Hamburg · DEUniversity Medical Center Hamburg-Eppendorf · DE
Funding
Medical Research Council G0802462Medical Research Council G0802760Medical Research Council G1001253Medical Research Council G108/638Medical Research Council MR/J004758/1
Abstract
objectiveTo determine the contribution of ADCY5 mutations in cases with genetically undefined benign hereditary chorea (BHC).
methodsWe studied 18 unrelated cases with BHC (7 familial, 11 sporadic) who were negative for NKX2-1 mutations. The diagnosis of BHC was based on the presence of a childhood-onset movement disorder, predominantly characterized by chorea and no other major neurologic features. ADCY5 analysis was performed by whole-exome sequencing or Sanger sequencing. ADCY5 and NKX2-1 expression during brain development and in the adult human brain was assessed using microarray analysis of postmortem brain tissue.
resultsThe c.1252C>T; p.R418W mutation was identified in 2 cases (1 familial, 1 sporadic). The familial case inherited the mutation from the affected father, who had a much milder presentation, likely due to low-grade somatic mosaicism. The mutation was de novo in the sporadic case. The clinical presentation of these cases featured nonparoxysmal generalized chorea, as well as dystonia in the most severely affected, but no facial myokymia. We observed significant progression of symptoms in ADCY5 mutation carriers, in contrast to BHC secondary to NKX2-1 mutations. The difference in the clinical course is mirrored by the brain expression data, showing increasing ADCY5 expression in the striatum during brain development, whereas NKX2-1 shows an opposite trend.
conclusionsOur study identifies mutations in ADCY5, the gene previously linked to familial dyskinesia with facial myokymia, as a cause of familial and sporadic BHC. ADCY5 genetic analysis should be performed in cases with a benign choreiform movement disorder even in the absence of facial myokymia.
Indexed as
Adenylyl CyclasesAdultChoreaHumansMaleMiddle AgedMutationPedigreeYoung AdultAdenylyl Cyclasesadenylyl cyclase type V
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