Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease)
نویسندگان
چکیده
منابع مشابه
Genotype-phenotype associations in Juvenile Ceroid Neuronal Lipofuscinosis (JNCL; CLN3)
1. Genotype-phenotype associations in Juvenile Ceroid Neuronal Lipofuscinosis (JNCL; CLN3). Heather R. Adams, Jennifer Kwon, Rachel Jordan, Frederick J. Marshall, Paul G. Rothberg, Amy Vierhile, Elisabeth A. deBlieck, David A. Pearce, Jonathan W. Mink. Department of Neurology; Clinical Trials Coordination Center; Pathology and Laboratory Medicine; Center for Aging and Developmental Biology, Uni...
متن کاملTranscript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models.
Juvenile neuronal ceroid lipofuscinoses (JNCL), commonly known as Batten disease, is a progressive neurodegenerative disorder of childhood characterized by blindness, seizures, motor and cognitive decline, leading to death in early adulthood. Mutations within the CLN3 gene, which encodes a putative lysosomal protein of unknown function, are the underlying cause of JNCL. Over 85% of JNCL patient...
متن کاملJuvenile neuronal ceroid lipofuscinosis (Batten disease): current insights
© 2016 Ostergaard. This work is published by Dove Medical Press Limited, and licensed under a Creative Commons Attribution License. The full terms of the License are available at http://creativecommons.org/licenses/by/4.0/. The license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. 2016 Ostergaard. This work is publi...
متن کاملCarrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis).
Batten disease, or the juvenile form of neuronal ceroid lipofuscinosis, is an autosomal recessive neurodegenerative disorder manifesting with progressive blindness, seizures, and dementia, leading to an early death. The CLN3 locus which is involved in Batten disease had been localized to chromosome 16p11.2. Linkage disequilibrium has been observed between CLN3 and polymorphic microsatellite mar...
متن کاملLeft ventricular hypertrabeculation/noncompaction in juvenile neuronal ceroid lipofuscinosis.
With interest we read the article by Murata et al. about a 17yo female with a 10y history of severely disabling juvenile neuronal ceroid lipofuscinosis (JNCL) in whom left ventricular hyper-trabeculation/noncompaction (LVHT) was diagnosed during hospi-talisation for aspiration pneumonia and consecutive heart failure 1). We have the following comments and concerns. The patient is interesting for...
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ژورنال
عنوان ژورنال: Annals of the New York Academy of Sciences
سال: 2016
ISSN: 0077-8923
DOI: 10.1111/nyas.12990