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Case Reports
. 2019 Sep 10;93(11):510-514.
doi: 10.1212/WNL.0000000000008089.

Child Neurology: Spastic paraparesis and dystonia with a novel ADCY5 mutation

Marissa Dean  1 , Ludwine Messiaen  2 , Gregory M Cooper  2 , Michelle D Amaral  2 , Salman Rashid  2 , Bruce R Korf  2 , David G Standaert  2
Affiliations
Case Reports

Child Neurology: Spastic paraparesis and dystonia with a novel ADCY5 mutation

Marissa Dean et al. Neurology. .
No abstract available

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Figures

Figure
Figure. MRI and magnetic resonance spectroscopy of the brain
(A) Axial T2-weighted fluid-attenuated inversion recovery image shows diffuse hyperintensities within the white matter, more pronounced on the left (arrow). (B) Axial T2-weighted image shows hyperintensities within the left caudate (arrow) and left putamen. (C) Midline sagittal axial T1-weighted image demonstrates mild cerebellar vermis atrophy (arrow). (D) Magnetic resonance spectroscopy obtained from voxels positioned in the cerebellar vermis reveals a low N-acetylaspartate peak.
See this image and copyright information in PMC

References

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    1. Chen YZ, Matsushita MM, Robertson P, et al. . Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. Arch Neurol 2012;69:630–635. - 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. 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 FC, Westenberger A, Dale RC, et al. . Phenotypic insights into ADCY5-associated disease. Mov Disord 2016;31:1033–1040. - PMC - PubMed

Publication types