Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

Jose Bras, Alain Verloes, Susanne A. Schneider, Sara E. Mole, Rita J. Guerreiro*

*Corresponding author for this work
112 Citations (Scopus)


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.

Original languageEnglish
Article numberdds089
JournalHuman Molecular Genetics
Issue number12
Pages (from-to)2646-2650
Number of pages5
Publication statusPublished - 01.06.2012


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