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Emerging Monogenic Complex Hyperkinetic Disorders

  • Published:2017-10-30 Issue:12 Volume:17 Page:
  • ISSN:1528-4042
  • Container-title:Current Neurology and Neuroscience Reports
  • language:en
  • Short-container-title:Curr Neurol Neurosci Rep

Author:

Carecchio Miryam,Mencacci Niccolò E.

Funder

University College London (UCL)

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,General Neuroscience

Reference86 articles.

1. Abdo WF, van de Warrenburg BP, Burn DJ, Quinn NP, Bloem BR. The clinical approach to movement disorders. Nat Rev Neurol. 2010;6:29–37.

2. • Chen YZ, Matsushita MM, Robertson P, Rieder M, Girirajan S, Antonacci F, et al. Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. Arch Neurol. 2012;69:630–5. This paper identifies for the first time a pathogenic mutation in ADCY5 as the cause of familial dyskinesia and facial myokymia, an autosomal dominant movement disorder previously described by Fernandez et al. in a large dominant kindred.

3. Fernandez M, Raskind W, Wolff J, Matsushita M, Yuen E, Graf W, et al. Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder. Ann Neurol. 2001;49:486–92.

4. Chen YZ, Friedman JR, Chen DH, Chan GC, Bloss CS, Hisama FM, et al. Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. Ann Neurol. 2014;75:542–9.

5. • Mencacci NE, Erro R, Wiethoff S, Hersheson J, Ryten M, Balint B, et al. ADCY5 mutations are another cause of benign hereditary chorea. Neurology. 2015;85:80–8. By studying 18 unrelated cases diagnosed with benign hereditary chorea without NKX2-1 mutations, the authors identify the ADCY5 p.R418W mutation in two cases showing chorea with a progressive course, in contrast to BHC secondary to NKX2-1 mutations. This difference in the clinical course is mirrored by brain expression data, showing increasing ADCY5 expression in the striatum during brain development, whereas NKX2-1 shows an opposite trend.

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