Expanding the ADCY5 phenotype toward spastic paraparesis: A mutation in the M2 domain

Affiliations

¹ Department of Neurology (A.J.E.W., R.Z., M.A.J.T.), and Department of Genetics (F.V., A.H.v.d.H., T.J.d.K.), University Medical Center Groningen, University of Groningen; Department of Pediatrics (J.M.), Deventer Hospital, The Netherlands; and Parkinson's Disease and Movement Disorders Unit (E.T.), Hospital Clinic of Barcelona, Institut Clínic de Neurociències, Barcelona, Spain.

Anne J E Waalkens et al. Neurol Genet. 2018.

. 2018 Jan 24;4(1):e214.

doi: 10.1212/NXG.0000000000000214. eCollection 2018 Feb.

¹ Department of Neurology (A.J.E.W., R.Z., M.A.J.T.), and Department of Genetics (F.V., A.H.v.d.H., T.J.d.K.), University Medical Center Groningen, University of Groningen; Department of Pediatrics (J.M.), Deventer Hospital, The Netherlands; and Parkinson's Disease and Movement Disorders Unit (E.T.), Hospital Clinic of Barcelona, Institut Clínic de Neurociències, Barcelona, Spain.

No abstract available

References

1. Chen DH, Méneret A, Friedman JR, et al. . ADCY5-related dyskinesia: broader spectrum and genotype-phenotype correlations. Neurology 2015;85:2026–2035. - PMC - PubMed
1. Chang FCF, Westenberger A, Dale RC, et al. . Phenotypic insights into ADYC5-associated disease. Mov Disord 2016;31:1033–1040. - PMC - PubMed
1. Chen YZ, Friedman JR, Chen DH, et al. . Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. Ann Neurol 2014;75:542–549. - PMC - PubMed
1. Iwamoto T, Okumura S, Iwatsubo K, et al. . Motor dysfunction in type 5 adenylyl cyclase-null mice. J Biol Chem 2003;278:16936–16940. - PubMed
1. Carapito R, Paul N, Untrau M, et al. . A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia. Mov Disord 2015;30:423–427. - PubMed