RELATIVE STABILIZATION IN COGNITIVE DECLINE WITH DONEPEZIL IN A PATIENT WITH JUVENILE NEURONAL CEROID LIPOFUSCINOSIS

Objectives: To determine the clinical effect of donepezil HCl on cognitive decline in juvenile neuronal ceroid lipofuscinosis.

Methods: The patient, a 16 1/2 year old female, first presented for evaluation of progressive visual loss, cognitive decline and spasticity in Dec., 2002. A clinical diagnosis of juvenile neuronal ceroid lipofuscinosis was confirmed by the finding of curvilinear and fingerprint inclusion bodies on electron microscopy of conjunctival and skin biopsies. A defect in the CLN1 gene was found. The patient was seen for neuropsychological evaluation at 4 time points (2 at other institutions, twice in our setting) over roughly 5 years. During this time frame she completely lost visual abilities. Thus, only auditory verbal neurocognitive skills could be reliably assessed over this timeframe. From May, 2000 (age 14–1) to May, 2004, (age 18–1) she lost 35–40 IQ points in verbal reasoning. The patient showed a significant transient decline in cognitive abilities while taking pseudoephedrine for allergies, presumably as a result of anticholinergic effects. Treatment with donepezil HCl was therefore started in May, 2004 in an attempt to forestall further cognitive decline.

Results: From May, 2004 to Feb., 2005 (age-18–11), her verbal IQ appeared to stabilize. Decomposition of VIQ into working memory and verbal reasoning components suggested that working memory skills continued to decline but reasoning abilities became stable. Inspection of raw scores indicated this was not due to floor effects on these measures. Based on the working memory trajectory it appears reasonable to assume that her decline follows a linear course. Thus the present results would seem to suggest stabilization in verbal reasoning.

Conclusion: The present results provide a preliminary suggestion of a selective impact of donepezil in this patient with Batten's disease.