ceroid/atrophy

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A Natural History Study of Late Infantile Variant CLN7 And CLN5 Disease

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Neuronal Ceroid Lipofuscinosis (NCL) are comprised of a group of fatal neurodegenerative diseases caused by mutations in an enzyme or protein which results in the accumulation of toxic deposits in the eye, brain, skin, muscle and other cells. CLN7 is a type of NCL caused by homozygous or bi-allelic

Genotype - Phenotype Correlations of LINCL

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This proposed clinical protocol is designed to assess genotype - phenotype correlations of LINCL, including a preliminary assessment regarding the genotype - phenotype correlations of progressive CNS deterioration inherent to this disorder. The trial will include the primary endpoint of neurological

Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis

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Neuronal ceroid lipofuscinoses (NCLs), commonly known as Batten disease, represent a group of the most common (1 in 12,500) heritable neurodegenerative storage disorders of childhood. Mutations of at least 8 different genes are responsible for various forms of NCL. The infantile form of NCL or INCL

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