neuronal ceroid lipofuscinosis

(redirected from Hereditary ceroid lipofuscinosis)

neu·ro·nal ceroid lipofuscinosis

a group of diseases characterized by accumulation of abnormal pigments in tissue (previously classified as cerebral sphingolipidoses). Major subtypes include chronic juvenile form (Batten disease), slowly progressive behavior and visual symptoms, autosomal recessive inheritance; acute, late infantile form (Bielschowsky disease); autosomal recessive inheritance; chronic adult form (Kufs disease), variable inheritance; acute infantile form (Santavuori-Haltia disease), fulminating motor and mental deterioration often associated with myoclonic seizures. Minor forms have also been described.

neuronal ceroid lipofuscinosis

(sîr′oid′ lĭp′ō-fŭs′ĭ-nō′sĭs, -fyo͞o′sĭ-)
Any of a group of inherited neurodegenerative diseases characterized by progressive intellectual and motor deterioration, visual loss, and seizures, and by the accumulation of lipid-containing pigments within cells especially of the nervous system.

neuronal ceroid lipofuscinosis



One of several mostly autosomal recessive neurodegenerative disorders, characterized by regression of previously attained development, visual impairment, seizures, dementia, and early death. The NCLs include Batten's disease, Kufs' disease, Jansky-Bielschowsky disease, Santavuori-Haltia disease, and Spielmeyer-Vogt disease. All of these illnesses are caused by enzyme deficiencies or anomalies that result in the excessive deposition of lipid-protein complexes in neuronal tissues.
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