Article
Hippocampal pathology in the human neuronal ceroid-lipofuscinoses: distinct patterns of storage deposition, neurodegeneration and glial activation.
Brain pathology (Zurich, Switzerland) - 1 Oct 2004
Tyynelä Jaana, Cooper Jonathan D, Khan M Nadeem, Shemilts Stephen J A, Haltia Matti
Abstract excerpt
The neuronal ceroid-lipofuscinoses (NCLs) are recessively inherited lysosomal storage diseases, currently classified into 8 forms (CLN1-CLN8). Collectively, the NCLs constitute the most common group of progressive encephalopathies of childhood, and present with visual impairment, psychomotor deterioration and severe seizures. Despite recent identification of the underlying disease genes, the mechanisms leading to...
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