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Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

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. Green open access

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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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