Neuronal ceroïd-lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a maghrebian series
- PMID: 35796208
- DOI: 10.1111/cge.14145
Neuronal ceroïd-lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a maghrebian series
Abstract
Our study included 13 patients diagnosed with neuronal ceroidlipofuscinosis. It is a group of rare genetically-determined neurodegenerativediseases characterized by clinical and genetic heterogeneity. brain MRI andelectroencephalogram facilitate diagnosis.
© 2022 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
References
REFERENCES
-
- Mole SE, Anderson G, Band HA, et al. Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis. Lancet Neurol. 2019;18(1):107-116.
-
- Beltrán L, Valenzuela GR, Loos M, et al. Late-onset childhood neuronal ceroid lipofuscinosis: early clinical and electroencephalographic markers. Epilepsy Res. 2018;144:49-52.
-
- Mink JW, Augustine EF, Adams HR, Marshall FJ, Kwon JM. Classification and natural history of the neuronal ceroid lipofuscinoses. J Child Neurol. 2013;28(9):1101-1105.
-
- Kamate M, Detroja M, Hattiholi V. Neuronal ceroid lipofuscinosis type-11 in an adolescent. Brain Dev. 2019;41(6):542-545.
-
- Huin V, Barbier M, Bottani A, et al. Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms. Brain. 2020;143(1):303-319.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources