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The Movement Disorder Society Release: First Prenatal Dopaminergic Replacement Therapy Shows Positive Clinical Outcome


6/18/2012 12:02:15 PM

DUBLIN – A study titled, “Beneficial prenatal levodopa therapy in autosomal recessive GTP cyclohydroxylase I deficiency” investigating prenatal dopaminerginic replacement therapy in siblings with a rare AR GTPCH deficiency without hyperphenylalaninemia was presented today at The Movement Disorder Society’s 16th International Congress of Parkinson’s Disease and Movement Disorders.

The study, led by Norbert Brüggemann, MD, of Lübeck, Germany, highlights the need for early diagnosis, including prenatal diagnosis, of complex dopa-responsive extrapyramidal syndromes to prevent impairment of both motor and mental maturation due to reduced dopaminergic neurotransmission in the developing brain of children.

Mutation analysis of the GTP cyclohydroxylase 1 (GCH1) gene and longitudinal case descriptions were done on two siblings who each carry homozygous mutations of the GCH1 gene. Levadopa treatment was initiated at age 10 months for the older sibling, who presented with typical features of AR GTPCH deficiency, which resulted in distinct motor improvement. However, mental development was moderately delayed. In the younger sibling, prenatal replacement therapy began after a prenatal diagnosis of AR GTPCH deficiency was made. By the age of 17 months, both motor and mental development was normal for the child’s age.

Susan Bressman, MD, of Beth Israel Medical Center, says this has potential implications for treatment. “Although this family is unusual in that there were homozygous GTPCH1 mutations (rather than heterozygous) and a severe phenotype, early/prenatal treatment appears to have resulted in a better clinical outcome including cognitive development in the second sibling. We often ponder whether apparently asymptomatic GTPCH carriers should be treated with low dose levodopa and whether this may impact the risk for late parkinsonism these gene carriers have. Although not directly applicable - this study would lend credence to that argument.”

About the 16th International Congress of Parkinson's Disease and Movement Disorders

Meeting attendees are gathered to learn the latest research findings and state-of-the-art treatment options in Movement Disorders, including Parkinson's disease. More than 4,500 physicians and medical professionals from 80 countries will be able to view over 1,600 scientific abstracts submitted by clinicians from around the world.

About The Movement Disorder Society

The Movement Disorder Society, an international society of over 3,500 clinicians, scientists, and other healthcare professionals, is dedicated to improving patient care through education and research. For more information about The Movement Disorder Society, visit www.movementdisorders.org



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