Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency

Nardo Nardocci, G. Zorzi, N. Blau, E. Fernandez Alvarez, M. Sesta, L. Angelini, M. Pannacci, F. Invernizzi, B. Garavaglia

Research output: Contribution to journalArticlepeer-review

Abstract

The authors report two twin sisters, age 15 years, with recessive GTP cyclohydrolase deficiency, who presented with neonatal onset of rigidity, tremor, and dystonia but with no other symptoms suggestive of a diffuse CNS involvement. The plasma phenylalanine levels were normal. Treatment with L-dopa/carbidopa, started at age 1 year, was associated with sustained recovery from all neurologic signs. The patients were homozygous for a new recessive mutation in the GHI gene.

Original languageEnglish
Pages (from-to)335-337
Number of pages3
JournalNeurology
Volume60
Issue number2
Publication statusPublished - Jan 28 2003

ASJC Scopus subject areas

  • Neuroscience(all)

Fingerprint Dive into the research topics of 'Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency'. Together they form a unique fingerprint.

Cite this