An Unusual Presentation of Neuronal Ceroid Lipofuscinosis With CLN6 Mutation

An Unusual Presentation of Neuronal Ceroid Lipofuscinosis With CLN6 Mutation

Background: Neuronal ceroid lipofuscinoses (NCL) is a rare progressive neurodegenerative disorder caused by more than 530 mutations of at least 13 different genes (CLN 1-14). NCL is a part of the lysosomal disease characterized by the presence of neuronal and extraneural autofluorescent lipopigme...

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Bibliographic Details
Main Authors: Shahin Koohmanaee, Seyyedeh Azadeh Hoseini Nouri, Vahid Aminzadeh, Manijeh Tabrizi, Reza Bayat, Fatemeh Kharaee, Maryam Shahrokhi, Afagh Hassanzadeh Rad, Saber Najafi Chakoosari, Setila Dalili, Ehsan Kazemnejad Leili
Format: Article
Language:English
Published: Guilan University of Medical Sciences 2023-01-01
Series:Caspian Journal of Neurological Sciences
Subjects:
neuronal ceroid-lipofuscinoses
phenotype
mutation
vision disorders
Online Access:https://cjns.gums.ac.ir/article-1-589-en.pdf

Internet

https://cjns.gums.ac.ir/article-1-589-en.pdf

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