Neuronal ceroid lipofuscinoses in children
Annals of Indian Academy of Neurology, 2021 Background: The neuronal ceroid lipofuscinoses (NCL) constitute a group of gray matter neurodegenerative disorders characterized by the accumulation of ceroid lipopigment in lysosomes in neurons and other cell types.
Mahesh Kamate +3 more
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Neurophysiological Findings in Neuronal Ceroid Lipofuscinoses [PDF]
Frontiers in Neurology, 2022 Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of neurodegenerative diseases, characterized by progressive cerebral atrophy due to lysosomal storage disorder. Common clinical features include epileptic seizures, progressive cognitive and
Marina Trivisano +7 more
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Autophagy in the Neuronal Ceroid Lipofuscinoses (Batten Disease) [PDF]
Frontiers in Cell and Developmental Biology, 2022 The neuronal ceroid lipofuscinoses (NCLs), also referred to as Batten disease, are a family of neurodegenerative diseases that affect all age groups and ethnicities around the globe. At least a dozen NCL subtypes have been identified that are each linked
William D. Kim +7 more
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Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7 [PDF]
Frontiers in Genetics, 2022 Neuronal ceroid lipofuscinoses (NCLs) are among the most common progressive encephalopathies of childhood. Neuronal ceroid lipofuscinosis 7 (CLN7), one of the late infantile-onset NCLs, is an autosomal recessive disorder caused by mutations in the MFSD8 ...
Yimeng Qiao +7 more
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Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses [PDF]
iScience, 2021 Summary: The neuronal ceroid lipofuscinoses (NCL) are a group of 13 rare neurodegenerative disorders characterized by accumulation of cellular storage bodies.
Katharina Iwan +8 more
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Top-down and bottom-up propagation of disease in the neuronal ceroid lipofuscinoses [PDF]
Frontiers in Neurology, 2022 BackgroundThe Neuronal Ceroid Lipofuscinoses (NCLs) may be considered distinct neurodegenerative disorders with separate underlying molecular causes resulting from monogenetic mutations.
John R. Ostergaard +5 more
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The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses [PDF]
Frontiers in Neurology, 2021 The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders that affect children and adults. They share some similar clinical features and the accumulation of autofluorescent storage material. Since the discovery of the
Emily Gardner, Sara E. Mole
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Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses. [PDF]
Dev Med Child NeurolThis original article is commented on by Mole on pages 156–157 of this issue. Abstract Aim To address disease progression in a cohort of patients with childhood‐onset neuronal ceroid lipofuscinosis (NCL), a group of genetic disorders leading to progressive dementia. Method In this retrospective study, selected clinical features (age at onset, at death,
Simonati A +4 more
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Experimental Therapeutic Approaches for the Treatment of Retinal Pathology in Neuronal Ceroid Lipofuscinoses [PDF]
Frontiers in Neurology, 2022 The neuronal ceroid lipofuscinoses (NCLs) are a group of childhood-onset neurodegenerative lysosomal storage disorders mainly affecting the brain and the retina.
Udo Bartsch, Stephan Storch
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High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses [PDF]
JIMD Reports, 2019 Background Neuronal ceroid lipofuscinoses are neurodegenerative disorders. To investigate the diagnostic yield of direct Sanger sequencing of the CLN genes, we reviewed Molecular Genetics Laboratory Database for molecular genetic test results of the CLN ...
Abdulhakim Jilani +8 more
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