Loss‐of‐Function Mutations in NR4A2 Cause Dopa‐Responsive Dystonia Parkinsonism
Background The group of dystonia genes is expanding, and mutations of these genes have been associated with various combined dystonia syndromes. Among the latter, the cause of some dystonia parkinsonism cases remains unknown. Objective To report patients with early‐onset dystonia parkinsonism as a r...
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| Published in | Movement disorders Vol. 35; no. 5; pp. 880 - 885 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Hoboken, USA
John Wiley & Sons, Inc
01.05.2020
Wiley Subscription Services, Inc Wiley |
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| Online Access | Get full text |
| ISSN | 0885-3185 1531-8257 1531-8257 |
| DOI | 10.1002/mds.27982 |
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| Abstract | Background
The group of dystonia genes is expanding, and mutations of these genes have been associated with various combined dystonia syndromes. Among the latter, the cause of some dystonia parkinsonism cases remains unknown.
Objective
To report patients with early‐onset dystonia parkinsonism as a result of loss‐of‐function mutations in nuclear receptor subfamily 4 group A member 2.
Methods
Phenotypic characterization and exome sequencing were carried out in 2 families.
Results
The 2 patients reported here both had a history of mild intellectual disability in childhood and subsequently developed dystonia parkinsonism in early adulthood. Brain magnetic resonance imaging was normal, and DATscan suggested bilateral dopaminergic denervation. Two frameshift mutations in NR4A2 were identified: a de novo insertion (NM_006186.3; c.326dupA) in the first case and another small insertion (NM_006186.3; c.881dupA) in the second.
Conclusions
NR4A2 haploinsufficiency mutations have been recently reported in neurodevelopmental phenotypes. Our findings indicate that dystonia and/or parkinsonism may appear years after initial symptoms. Mutations in NR4A2 should be considered in patients with unexplained dystonia parkinsonism. © 2020 International Parkinson and Movement Disorder Society |
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| AbstractList | The group of dystonia genes is expanding, and mutations of these genes have been associated with various combined dystonia syndromes. Among the latter, the cause of some dystonia parkinsonism cases remains unknown.BACKGROUNDThe group of dystonia genes is expanding, and mutations of these genes have been associated with various combined dystonia syndromes. Among the latter, the cause of some dystonia parkinsonism cases remains unknown.To report patients with early-onset dystonia parkinsonism as a result of loss-of-function mutations in nuclear receptor subfamily 4 group A member 2.OBJECTIVETo report patients with early-onset dystonia parkinsonism as a result of loss-of-function mutations in nuclear receptor subfamily 4 group A member 2.Phenotypic characterization and exome sequencing were carried out in 2 families.METHODSPhenotypic characterization and exome sequencing were carried out in 2 families.The 2 patients reported here both had a history of mild intellectual disability in childhood and subsequently developed dystonia parkinsonism in early adulthood. Brain magnetic resonance imaging was normal, and DATscan suggested bilateral dopaminergic denervation. Two frameshift mutations in NR4A2 were identified: a de novo insertion (NM_006186.3; c.326dupA) in the first case and another small insertion (NM_006186.3; c.881dupA) in the second.RESULTSThe 2 patients reported here both had a history of mild intellectual disability in childhood and subsequently developed dystonia parkinsonism in early adulthood. Brain magnetic resonance imaging was normal, and DATscan suggested bilateral dopaminergic denervation. Two frameshift mutations in NR4A2 were identified: a de novo insertion (NM_006186.3; c.326dupA) in the first case and another small insertion (NM_006186.3; c.881dupA) in the second.NR4A2 haploinsufficiency mutations have been recently reported in neurodevelopmental phenotypes. Our findings indicate that dystonia and/or parkinsonism may appear years after initial symptoms. Mutations in NR4A2 should be considered in patients with unexplained dystonia parkinsonism. © 2020 International Parkinson and Movement Disorder Society.CONCLUSIONSNR4A2 haploinsufficiency mutations have been recently reported in neurodevelopmental phenotypes. Our findings indicate that dystonia and/or parkinsonism may appear years after initial symptoms. Mutations in NR4A2 should be considered in patients with unexplained dystonia parkinsonism. © 2020 International Parkinson and Movement Disorder Society. The group of dystonia genes is expanding, and mutations of these genes have been associated with various combined dystonia syndromes. Among the latter, the cause of some dystonia parkinsonism cases remains unknown. To report patients with early-onset dystonia parkinsonism as a result of loss-of-function mutations in nuclear receptor subfamily 4 group A member 2. Phenotypic characterization and exome sequencing were carried out in 2 families. The 2 patients reported here both had a history of mild intellectual disability in childhood and subsequently developed dystonia parkinsonism in early adulthood. Brain magnetic resonance imaging was normal, and DATscan suggested bilateral dopaminergic denervation. Two frameshift mutations in NR4A2 were identified: a de novo insertion (NM_006186.3; c.326dupA) in the first case and another small insertion (NM_006186.3; c.881dupA) in the second. NR4A2 haploinsufficiency mutations have been recently reported in neurodevelopmental phenotypes. Our findings indicate that dystonia and/or parkinsonism may appear years after initial symptoms. Mutations in NR4A2 should be considered in patients with unexplained dystonia parkinsonism. © 2020 International Parkinson and Movement Disorder Society. Background The group of dystonia genes is expanding, and mutations of these genes have been associated with various combined dystonia syndromes. Among the latter, the cause of some dystonia parkinsonism cases remains unknown. Objective To report patients with early‐onset dystonia parkinsonism as a result of loss‐of‐function mutations in nuclear receptor subfamily 4 group A member 2. Methods Phenotypic characterization and exome sequencing were carried out in 2 families. Results The 2 patients reported here both had a history of mild intellectual disability in childhood and subsequently developed dystonia parkinsonism in early adulthood. Brain magnetic resonance imaging was normal, and DATscan suggested bilateral dopaminergic denervation. Two frameshift mutations in NR4A2 were identified: a de novo insertion (NM_006186.3; c.326dupA) in the first case and another small insertion (NM_006186.3; c.881dupA) in the second. Conclusions NR4A2 haploinsufficiency mutations have been recently reported in neurodevelopmental phenotypes. Our findings indicate that dystonia and/or parkinsonism may appear years after initial symptoms. Mutations in NR4A2 should be considered in patients with unexplained dystonia parkinsonism. © 2020 International Parkinson and Movement Disorder Society BACKGROUND: The group of dystonia genes is expanding, and mutations of these genes have been associated with various combined dystonia syndromes. Among the latter, the cause of some dystonia parkinsonism cases remains unknown. OBJECTIVE: To report patients with early-onset dystonia parkinsonism as a result of loss-of-function mutations in nuclear receptor subfamily 4 group A member 2. METHODS: Phenotypic characterization and exome sequencing were carried out in 2 families. RESULTS: The 2 patients reported here both had a history of mild intellectual disability in childhood and subsequently developed dystonia parkinsonism in early adulthood. Brain magnetic resonance imaging was normal, and DATscan suggested bilateral dopaminergic denervation. Two frameshift mutations in NR4A2 were identified: a de novo insertion (NM_006186.3; c.326dupA) in the first case and another small insertion (NM_006186.3; c.881dupA) in the second. CONCLUSIONS: NR4A2 haploinsufficiency mutations have been recently reported in neurodevelopmental phenotypes. Our findings indicate that dystonia and/or parkinsonism may appear years after initial symptoms. Mutations in NR4A2 should be considered in patients with unexplained dystonia parkinsonism. (c) 2020 International Parkinson and Movement Disorder Society. BackgroundThe group of dystonia genes is expanding, and mutations of these genes have been associated with various combined dystonia syndromes. Among the latter, the cause of some dystonia parkinsonism cases remains unknown.ObjectiveTo report patients with early‐onset dystonia parkinsonism as a result of loss‐of‐function mutations in nuclear receptor subfamily 4 group A member 2.MethodsPhenotypic characterization and exome sequencing were carried out in 2 families.ResultsThe 2 patients reported here both had a history of mild intellectual disability in childhood and subsequently developed dystonia parkinsonism in early adulthood. Brain magnetic resonance imaging was normal, and DATscan suggested bilateral dopaminergic denervation. Two frameshift mutations in NR4A2 were identified: a de novo insertion (NM_006186.3; c.326dupA) in the first case and another small insertion (NM_006186.3; c.881dupA) in the second.ConclusionsNR4A2 haploinsufficiency mutations have been recently reported in neurodevelopmental phenotypes. Our findings indicate that dystonia and/or parkinsonism may appear years after initial symptoms. Mutations in NR4A2 should be considered in patients with unexplained dystonia parkinsonism. © 2020 International Parkinson and Movement Disorder Society |
| Author | Habert, Marie‐Odile Wirth, Thomas Tranchant, Christine Anheim, Mathieu Roze, Emmanuel Ollivier, Emmanuelle Rudolf, Gabrielle Mariani, Louise Laure Hodžić, Alenka Rudolf, Gorazd Bergant, Gaber Baulac, Michel Nitschke, Patrick Chelly, Jamel Drouot, Nathalie |
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| Keywords | NR4A2 developmental delay parkinsonism dystonia next generation sequencing Sciences du Vivant [q-bio]/Génétique |
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| Notes | Thomas Wirth and Louise Laure Mariani are cofirst authors and contributed equally to this study. Funding information T. Wirth was funded by a grant from the Revue Neurologique for this work. The study has been supported by a grant from France Parkinson. Nothing to report. Relevant conflicts of interests/financial disclosures Funding agencies France Parkinson; Revue Neurologique ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Case Study-2 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 |
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The group of dystonia genes is expanding, and mutations of these genes have been associated with various combined dystonia syndromes. Among the... The group of dystonia genes is expanding, and mutations of these genes have been associated with various combined dystonia syndromes. Among the latter, the... BackgroundThe group of dystonia genes is expanding, and mutations of these genes have been associated with various combined dystonia syndromes. Among the... BACKGROUND: The group of dystonia genes is expanding, and mutations of these genes have been associated with various combined dystonia syndromes. Among the... |
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| SubjectTerms | Adult Basal ganglia Brain diseases Central nervous system diseases Child Children Denervation developmental delay Dihydroxyphenylalanine Dopamine receptors Dystonia Dystonic Disorders - genetics Frameshift mutation Genetics Haploinsufficiency Humans Intellectual disabilities Life Sciences Magnetic resonance imaging Movement disorders Mutation Mutation - genetics Neuroimaging next generation sequencing NR4A2 Nuclear Receptor Subfamily 4, Group A, Member 2 - genetics Parkinsonian Disorders - diagnostic imaging Parkinsonian Disorders - genetics parkinsonism Phenotypes |
| Title | Loss‐of‐Function Mutations in NR4A2 Cause Dopa‐Responsive Dystonia Parkinsonism |
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