Article
Variant late infantile neuronal ceroid-lipofuscinosis: pathology and biochemistry.
Journal of neuropathology and experimental neurology - 1 Apr 1997
Tyynelä J, Suopanki J, Santavuori P, Baumann M, Haltia M
Abstract excerpt
The neuronal ceroid-lipofuscinoses (NCL) are among the most common inherited neurodegenerative disorders of childhood. The genomic defect causing a variant late infantile neuronal ceroid-lipofuscinosis (vLINCL, also called CLN-5 or variant Jansky-Bielschowsky disease) has recently been localized to chromosome 13q22, thus delineating this disease as a separate entity. This particular form of NCL is clinically well...
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