Neuronal ceroïd-lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a maghrebian series.

Autor: Ben Younes T; LR 18SP04 and Department of Child Neurology, National Institute Mongi Ben Hmida of Neurology of Tunis, Tunis, Tunisia.; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Kraoua I; LR 18SP04 and Department of Child Neurology, National Institute Mongi Ben Hmida of Neurology of Tunis, Tunis, Tunisia.; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Snanoudj S; Department of Metabolic Biochemistry, UNIROUEN, INSERM U1245, CHU Rouen, Normandie University, Rouen, France., Klaa H; LR 18SP04 and Department of Child Neurology, National Institute Mongi Ben Hmida of Neurology of Tunis, Tunis, Tunisia.; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Benrhouma H; LR 18SP04 and Department of Child Neurology, National Institute Mongi Ben Hmida of Neurology of Tunis, Tunis, Tunisia.; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Rouissi A; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Caillaud C; Department of Metabolic Biochemistry, Necker-Enfants Malades Hospital, Université Paris Cité, Paris, France., Chaabouni M; LGC genetics-Laboratory of medical analyzes and human genetics, Jasmins Medical Center, Tunis, Tunisia., Miladi N; Neuropediatrics medical office, Maghreb Medical, Tunis, Tunisia., Bekri S; Department of Metabolic Biochemistry, UNIROUEN, INSERM U1245, CHU Rouen, Normandie University, Rouen, France., Ben Youssef-Turki I; LR 18SP04 and Department of Child Neurology, National Institute Mongi Ben Hmida of Neurology of Tunis, Tunis, Tunisia.; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
Jazyk: angličtina
Zdroj: Clinical genetics [Clin Genet] 2022 Aug; Vol. 102 (2), pp. 157-160.
DOI: 10.1111/cge.14145
Abstrakt: 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.)
Databáze: MEDLINE
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