Broad clinical phenotype in Parkinsonism associated with a base pair deletion in RAB39B and additional POLG variant

Parkinsonism Relat Disord. 2016 Oct:31:148-150. doi: 10.1016/j.parkreldis.2016.07.005. Epub 2016 Jul 15.

Authors

Max Güldner¹, Claudia Schulte¹, Ann-Kathrin Hauser¹, Thomas Gasser¹, Kathrin Brockmann²

Affiliations

¹ University of Tuebingen, Department of Neurodegeneration, Hertie Institute for Clinical Brain Research and German Center of Neurodegenerative Diseases (DZNE), Tuebingen, Germany.
² University of Tuebingen, Department of Neurodegeneration, Hertie Institute for Clinical Brain Research and German Center of Neurodegenerative Diseases (DZNE), Tuebingen, Germany. Electronic address: Kathrin.Brockmann@uni-tuebingen.de.

PMID: 27448726
DOI: 10.1016/j.parkreldis.2016.07.005

No abstract available

Keywords: Intellectual disability; Parkinson; RAB39B; Spastic paraplegia.

Publication types

Letter

MeSH terms

Adult
Aged
DNA Polymerase gamma / genetics*
Genetic Association Studies
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Mutation / genetics*
Parkinsonian Disorders / diagnostic imaging
Parkinsonian Disorders / genetics*
Phenotype
Sequence Deletion / genetics*
Young Adult
rab GTP-Binding Proteins / genetics*

Substances

DNA Polymerase gamma
POLG protein, human
Rab39B protein, human
rab GTP-Binding Proteins