Abstract Details

Title Long Term Follow Up of Initial L Dopa Therapy in Angelman Syndrome

Topic Child Neurology/Developmental Neurobiology

Presentation(s) S25 - (-)

Poster/Presentation
Number 007

Objective

Background Angelman syndrome is characterized by chromosomal deletion 5q11 2-13 in 70% of affected individuals localized bi FISH. Children demonstrate development delay, ataxia, tremor, behavioral uniqueness, attention deficit,and microcephaly. Several phenotypes exist. A gene within the AS chromosome deletion, UBE3A encodes an enzymatic protein: ubiquitin protein ligase in the ubiquitin-protease pathway. Several genetic classes of AS exist. Predominant are features of ataxia, tremulousness, seizures that may persist into adulthood. Cognitive impairment coexists. Deficiency of UBE3A protein influences CAMKII, a molecule that is secondarily involved. Studies have demonstrated that symptoms of AS may be lessened by l dopa utilizing a mouse model.

Design/Methods Administration of levodopa/carbidopa in three children with AS over 5 years starting at age 3 demonstrating features of seizures, ataxia, tremulousness, motor impersistence with parental reporting of cognitive skills was performed. Monitoring for seizure worsening and side effects was stringent. Carbidopa/levodopa(Sinemet) ranged from 10/100 1/4 bid to 10/100 tid. Pre and post videos were carried out.

Results Video obtained pre and post initiation of therapy demonstrated sustained improvement in ataxia and tremulousness. Seizures did not increase. Dyskinesias were not observed. A wearing off effect necessitated tid administration in one patient.

Conclusions L-Dopa may be considered in the therapeutic management of children with Angelman syndrome. This relates to its activity in the ubiquitin protease pathway. Measurement of cognitive improvement in this age group is limited. This extends another use for L-Dopa in childhood non Parkinsonian disease.

Authors/Disclosures
Bennett L. Lavenstein, MD, FAAN PRESENTER	No disclosure on file
	No disclosure on file
	No disclosure on file

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