Novel compound heterozygous synaptojanin-1 mutation causes l-dopa-responsive dystonia-parkinsonism syndrome

Mov Disord. 2017 Mar;32(3):478-480. doi: 10.1002/mds.26876. Epub 2016 Nov 21.

Affiliations

¹ Department of Human Genetics, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
² Department of Neurology, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
³ Department of Stereotactic and Functional Neurosurgery, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.
⁴ Department of Nuclear Medicine, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.

PMID: 27869329
DOI: 10.1002/mds.26876

No abstract available

Publication types

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

MeSH terms

Antiparkinson Agents / therapeutic use*
Corpus Striatum / diagnostic imaging
Corpus Striatum / drug effects
Dystonic Disorders* / complications
Dystonic Disorders* / diagnostic imaging
Dystonic Disorders* / drug therapy
Dystonic Disorders* / genetics
Humans
Levodopa / therapeutic use*
Male
Mutation / genetics*
Nerve Tissue Proteins / genetics*
Parkinsonian Disorders* / complications
Parkinsonian Disorders* / diagnostic imaging
Parkinsonian Disorders* / drug therapy
Parkinsonian Disorders* / genetics
Pedigree
Phosphoric Monoester Hydrolases / genetics*
Tomography, Emission-Computed, Single-Photon

Substances

Antiparkinson Agents
Nerve Tissue Proteins
Levodopa
synaptojanin
Phosphoric Monoester Hydrolases