UCL logo

UCL Discovery

UCL home » Library Services » Electronic resources » UCL Discovery

ATP13A2 Mutations (PARK9) Cause Neurodegeneration with Brain Iron Accumulation

Schneider, SA; Paisan-Ruiz, C; Quinn, NP; Lees, AJ; Houlden, H; Hardy, J; Bhatia, KP; (2010) ATP13A2 Mutations (PARK9) Cause Neurodegeneration with Brain Iron Accumulation. MOVEMENT DISORD , 25 (8) 979 - 984. 10.1002/mds.22947.

Full text not available from this repository.

Abstract

Kufor Rakeb disease (KRD, PARK9) is an autosomal recessive extrapyramidal-pyramidal syndrome with generalized brain atrophy due to ATP13A2 gene mutations. We report clinical details and investigational results focusing on radiological findings of a genetically-proven KRD case. Clinically, there was early onset levodopa-responsive dystonia-parkinsonism with pyramidal signs and eye movement abnormalities. Brain MRI revealed generalized atrophy and putaminal and caudate iron accumulation bilaterally. Our findings add KRD to the group of syndromes of neurodegeneration with brain iron accumulation (NBIA). KRD should be considered in patients with dystonia-parkinsonism with iron on brain imaging and we suggest classifying as NBIA type 3. (C) 2010 Movement Disorder Society

Type: Article
Title: ATP13A2 Mutations (PARK9) Cause Neurodegeneration with Brain Iron Accumulation
DOI: 10.1002/mds.22947
Keywords: PARK9, ATP13A2, Kufor Rakeb, dystonia parkinsonism, brain iron, NBIA, iron deposition, neurodegeneration with brain iron accumulation, Parkinson genetics, PALLIDO-PYRAMIDAL DEGENERATION, SUPRANUCLEAR UPGAZE PARESIS, HALLERVORDEN-SPATZ-SYNDROME, KUFOR-RAKEB-SYNDROME, JUVENILE PARKINSONISM, DYSTONIA-PARKINSONISM, DEMENTIA, DISEASE, PLA2G6, MRI
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
URI: http://discovery.ucl.ac.uk/id/eprint/191456
Downloads since deposit
0Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item