TY - JOUR
T1 - Emerging Monogenic Complex Hyperkinetic Disorders
AU - Carecchio, Miryam
AU - Mencacci, Niccolò E.
N1 - Publisher Copyright:
© 2017, The Author(s).
Copyright:
Copyright 2018 Elsevier B.V., All rights reserved.
PY - 2017/12/1
Y1 - 2017/12/1
N2 - Purpose of Review: Hyperkinetic movement disorders can manifest alone or as part of complex phenotypes. In the era of next-generation sequencing (NGS), the list of monogenic complex movement disorders is rapidly growing. This review will explore the main features of these newly identified conditions. Recent Findings: Mutations in ADCY5 and PDE10A have been identified as important causes of childhood-onset dyskinesias and KMT2B mutations as one of the most frequent causes of complex dystonia in children. The delineation of the phenotypic spectrum associated with mutations in ATP1A3, FOXG1, GNAO1, GRIN1, FRRS1L, and TBC1D24 is revealing an expanding genetic overlap between epileptic encephalopathies, developmental delay/intellectual disability, and hyperkinetic movement disorders,. Summary: Thanks to NGS, the etiology of several complex hyperkinetic movement disorders has been elucidated. Importantly, NGS is changing the way clinicians diagnose these complex conditions. Shared molecular pathways, involved in early stages of brain development and normal synaptic transmission, underlie basal ganglia dysfunction, epilepsy, and other neurodevelopmental disorders.
AB - Purpose of Review: Hyperkinetic movement disorders can manifest alone or as part of complex phenotypes. In the era of next-generation sequencing (NGS), the list of monogenic complex movement disorders is rapidly growing. This review will explore the main features of these newly identified conditions. Recent Findings: Mutations in ADCY5 and PDE10A have been identified as important causes of childhood-onset dyskinesias and KMT2B mutations as one of the most frequent causes of complex dystonia in children. The delineation of the phenotypic spectrum associated with mutations in ATP1A3, FOXG1, GNAO1, GRIN1, FRRS1L, and TBC1D24 is revealing an expanding genetic overlap between epileptic encephalopathies, developmental delay/intellectual disability, and hyperkinetic movement disorders,. Summary: Thanks to NGS, the etiology of several complex hyperkinetic movement disorders has been elucidated. Importantly, NGS is changing the way clinicians diagnose these complex conditions. Shared molecular pathways, involved in early stages of brain development and normal synaptic transmission, underlie basal ganglia dysfunction, epilepsy, and other neurodevelopmental disorders.
KW - Epilepsy
KW - Genetics
KW - Hyperkinetic
KW - Movement disorders
KW - Next-generation sequencing
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U2 - 10.1007/s11910-017-0806-2
DO - 10.1007/s11910-017-0806-2
M3 - Review article
C2 - 29086067
AN - SCOPUS:85032706032
VL - 17
JO - Current Neurology and Neuroscience Reports
JF - Current Neurology and Neuroscience Reports
SN - 1528-4042
IS - 12
M1 - 97
ER -