Clinical Heterogeneity of Neuronal Ceroid Lipofuscinosis Type 13: A Case Report and Systematic Review of Literature

In this study, we describe a 54-year-old Indian woman who presented with clinical features of Kufs syndrome A (KSA) and Kufs syndrome B (KSB), as well as neuropathologic and genetic findings consistent with neuronal ceroid lipofuscinosis type 13 (CLN13). Subsequently, we review the clinicopathologic...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Neurology. Genetics 2025-02, Vol.11 (1), p.e200227
Hauptverfasser:	Ghayal, Nikhil B, Roemer, Shanu F, Tipton, Philip W, Jiang, Peizhou, Selner, Elizabeth M, Peck, Dawn S, Murakami, Aya, Oglesbee, Devin, Graff-Radford, Neill R, Dickson, Dennis W
Format:	Artikel
Sprache:	eng
Schlagworte:	Clinical/Scientific Note
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!