Clinical Features

Cerebellar ataxia, seizures, and myoclonic jerks characterize all age-related variants. Infantile and late-infantile NCL present with psychomotor regression and visual failure progressing to blindness from macular and retinal degeneration. Behavioral changes, cognitive decline, visual impairment from pigmentary retinal degeneration, and vacuolated lymphocytes occur in juvenile NCL. Adult NCL may be of early onset (phe-notype A), presenting with cognitive impairment, or it may be of late onset (phenotype B), presenting with behavioral and affective changes and motor deficits. Mixed forms may also occur. Vision is not affected in either. Low-frequency photic stimulation typically evokes myoclonic responses. Autosomal dominant inheritance has been reported in one family.

The diagnosis is confirmed with skin, conjunctival, or rectal biopsy. Histochemical stains reveal the storage material. Electron microscopic examination shows distinct ultrastructural patterns. Biochemical enzyme assays confirm lysosomal protease deficiencies in infantile and late infantile diseases. Genetic studies complement the diagnostic evaluation.

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