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- Title
Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis.
- Authors
Ward, Michael E.; Chen, Robert; Hsin-Yi Huang; Ludwig, Connor; Telpoukhovskaia, Maria; Taubes, Ali; Boudin, Helene; Minami, Sakura S.; Reichert, Meredith; Albrecht, Philipp; Gelfand, Jeffrey M.; Cruz-Herranz, Andres; Cordano, Christian; Alavi, Marcel V.; Leslie, Shannon; Seeley, William W.; Miller, Bruce L.; Bigio, Eileen; Mesulam, Marek-Marsel; Bogyo, Matthew S.
- Abstract
The article presents a research which shows the association of progranulin (PGRN) haploinsufficiency in leading neuronal ceroid lipofuscinosis (NCL)-like features in humans, some occurring before dementia onset. The preclinical retinal lipofuscinosis in heterozygous GRN mutation carriers revealed in noninvasive retinal imaging is mentioned. It is inferred that progranulin haploinsufficiency leads to accumulation of NCL-like storage material and early retinal abnormalities in humans.
- Subjects
PROGRANULIN; PROTEIN precursors; NEURONAL ceroid-lipofuscinosis; INBORN errors of metabolism; DEMYELINATION
- Publication
Science Translational Medicine, 2017, Vol 9, Issue 385, p1
- ISSN
1946-6234
- Publication type
Article
- DOI
10.1126/scitranslmed.aah5642