Bras, J;
Verloes, A;
Schneider, SA;
Mole, SE;
Guerreiro, RJ;
(2012)
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.
Human Molecular Genetics
, 21
(12)
2646 - 2650.
10.1093/hmg/dds089.
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Abstract
Neuronal ceroid lipofuscinoses (NCLs) comprise a heterogeneous group of metabolic storage diseases that present with the accumulation of autofluorescent lipopigment, neurodegeneration and premature death. Nine genes have been thus far identified as the cause of different types of NCL, with ages at onset ranging from around birth to adult, although the underlying etiology of the disease still remains elusive. We present a family with typical NCL pathology in which we performed exome sequencing and identified a single homozygous mutation in ATP13A2 that fully segregates with disease within the family. Mutations in ATP13A2 are a known cause of Kufor-Rakeb syndrome (KRS), a rare parkinsonian phenotype with juvenile onset. These data show that NCL and KRS may share etiological features and implicate the lysosomal pathway in Parkinson's disease.
| Type: | Article |
|---|---|
| Title: | Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1093/hmg/dds089 |
| Publisher version: | http://dx.doi.org/10.1093/hmg/dds089 |
| Language: | English |
| Additional information: | © The Author 2012. Published by Oxford University Press This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.5), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. PMCID: PMC3363329 |
| Keywords: | Adult, Amino acid sequence, Base sequence, DNA mutational analysis, Exome, Family health, Female, Genetic predisposition to disease, Homozygote, Humans, Male, Molecular sequence data, Mutation, Neuronal ceroid-lipofuscinoses, Parkinsonian disorders, Pedigree, Proton-translocating ATPases, Sequence homology, Amino acid |
| UCL classification: | UCL 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 > Neurodegenerative Diseases UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1342944 |
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