Results 21 to 30 of about 425 (135)
Autophagy in the Neuronal Ceroid Lipofuscinoses (Batten Disease)
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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Cerolipofuscinose: estudo ultrastrutural de 8 casos.
Acta Médica Portuguesa, 1989 The authors studied the clinical and ultrastructural features of 8 cases of Neuronal Ceroid-Lipofuscinosis (NCL). Five cases of the late-infantile type and 3 cases of the juvenile type.
C Matias +6 more
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Clinical, MRI, and Genetic Findings in Batten Disease
Pediatric Neurology Briefs, 1998 The correlation of clinical, MRI and genetic factors in 36 patients with Batten disease (juvenile-onset neuronal ceroid lipofuscinosis) followed up for 25 years is reported from the Department of Paediatric Neurology, University of Helsinki, Finland, and
J Gordon Millichap
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Neuronal Ceroid Lipofuscinosis: A Common Pathway? [PDF]
Pediatric Research, 2007 The neuronal ceroid lipofuscinoses are pediatric neurodegenerative diseases with common clinical features. Of the nine clinical variants (CLN1-CLN9), six have been genetically identified. Most variants manifest cell death and dysregulated sphingolipid metabolism, suggesting the proteins defective in these disorders may interact along one pathway.
Dixie-Ann, Persaud-Sawin +5 more
openaire +2 more sources
Subdural Effusion and Infantile Neuronal Ceroid Lipofuscinosis
Pediatric Neurology Briefs, 2010 During the course of an ongoing NIH clinical study evaluating the benefit of cysteamine and N-acetylcysteine in 9 patients with infantile neuronal ceroid lipofuscinosis (INCL), 4 were found to have subdural fluid collections without mass effect.
J Gordon Millichap
doaj +1 more source
Clinical Parkinsonism & Related DisordersNeuronal ceroid lipofuscinosis is a rare lysosomal storage disorder that is difficult to distinguish from other diseases with similar clinical symptoms in its early stages.
Yubo Hu +5 more
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Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells. [PDF]
PLoS ONE, 2011 Variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), caused by CLN6 mutation, and juvenile neuronal ceroid lipofuscinosis (JNCL), caused by CLN3 mutation, share clinical and pathological features, including lysosomal accumulation of ...
Yi Cao +6 more
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Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7
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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Lamotrigine Therapy in Neuronal Lipofuscinosis
Pediatric Neurology Briefs, 1999 Lamotrigine (LTG) long-term anticonvulsant therapy was evaluated in 29 patients, aged 6-28 years (mean, 14 years), with juvenile neuronal ceroid lipofuscinosis (JNCL), followed for 1-6 years (mean, 3 years) at the Hospital for Children and Adolescents ...
J Gordon Millichap
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International Clinical Neuroscience Journal, 2021 Ceroid neuronal lipofuscinosis (CLN) is a rare group of autosomal recessive neurodegenerative diseases that cause developmental delay and seizures. Herein, we present a case of a 7-year-old girl who referred for magnetic resonance imaging (MRI) following
Antonio Gomes Lima Júnior +8 more
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