PDE10A mutation in two sisters with a hyperkinetic movement disorder - Response to levodopa

Parkinsonism Relat Disord. 2019 Jun:63:240-242. doi: 10.1016/j.parkreldis.2019.02.007. Epub 2019 Feb 10.

Authors

C Knopp¹, M Häusler², B Müller², R Damen², A Stoppe², M Mull³, M Elbracht⁴, I Kurth⁴, M Begemann⁴

Affiliations

¹ Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany. Electronic address: [email protected].
² Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074 Aachen, Germany.
³ Department of Diagnostic and Interventional Neuroradiology, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074 Aachen, Germany.
⁴ Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074 Aachen, Germany.

PMID: 30777652
DOI: 10.1016/j.parkreldis.2019.02.007

No abstract available

Keywords: Hyperkinetic movement disorder; L-dopa; Medium spiny neurons; Mesial temporal sclerosis; PDE10A.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Aromatic Amino Acid Decarboxylase Inhibitors / administration & dosage
Aromatic Amino Acid Decarboxylase Inhibitors / pharmacology*
Benserazide / administration & dosage
Benserazide / pharmacology*
Child
Consanguinity
Dopamine Agents / administration & dosage
Dopamine Agents / pharmacology*
Drug Combinations
Epilepsy, Temporal Lobe* / drug therapy
Epilepsy, Temporal Lobe* / genetics
Exome Sequencing
Female
Humans
Hyperkinesis* / drug therapy
Hyperkinesis* / genetics
Infant
Levodopa / administration & dosage
Levodopa / pharmacology*
Movement Disorders* / drug therapy
Movement Disorders* / genetics
Phosphoric Diester Hydrolases / genetics*
Siblings

Substances

Aromatic Amino Acid Decarboxylase Inhibitors
Dopamine Agents
Drug Combinations
benserazide, levodopa drug combination
Levodopa
Benserazide
PDE10A protein, human
Phosphoric Diester Hydrolases