Journal
HUMAN MOLECULAR GENETICS
Volume 21, Issue 12, Pages 2646-2650Publisher
OXFORD UNIV PRESS
DOI: 10.1093/hmg/dds089
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Funding
- Wellcome Trust/MRC [WT089698]
- European Union [281234]
- Medical Research Council
- Batten Disease Support and Research Association, USA
- Wellcome Trust
- MRC [MC_G1000735] Funding Source: UKRI
- Medical Research Council [MC_G1000735] Funding Source: researchfish
- Parkinson's UK [G-1107] Funding Source: researchfish
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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 KuforRakeb 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 Parkinsons disease.
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