A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature

A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature

The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of autosomal recessive lysosomal storage disorders that are characterized by neurodegeneration, progressive cognitive decline, motor impairment, ataxia, loss of vision, seizures, and premature death. To date, pathog...

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Bibliographic Details
Main Authors: Paschalis Nicolaou, George A. Tanteles, Christina Votsi, Eleni Zamba-Papanicolaou, Savvas S. Papacostas, Kyproula Christodoulou, Yiolanda-Panayiota Christou
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-11-01
Series:Frontiers in Genetics
Subjects:
neuronal ceroid lipofuscinosis
batten disease
CNL6
next-generation sequencing
lysosomal storage disorders
in silico prediction
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.746101/full

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https://www.frontiersin.org/articles/10.3389/fgene.2021.746101/full

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