Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.

doi:10.1002/ajmg.b.32020

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Article

Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Mar 2012

Derwińska Katarzyna, Mierzewska Hanna, Goszczańska Alicja, Szczepanik Elżbieta, Xia Zhilian, Kuśmierska Katarzyna, Tryfon Jolanta, Kutkowska-Kaźmierczak Anna, Bocian Ewa, Mazurczak Tadeusz, Obersztyn Ewa, Stankiewicz Paweł

Abstract excerpt

The development of midbrain dopamine (DA) neurons is regulated by several transcription factors, including Nurr1, Wnt1, Lmx1a/1b, En1, En2, Foxa1, Foxa2, and Pitx3. PITX3 is an upstream co-activator of the TH (tyrosine hydroxylase) promoter. Pitx3(-/-) mice have a selective loss of dopaminergic neurons in the substantia nigra and ventral tegmental area, leading to the significantly reduced DA levels in the...

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PMID: 22223473
DOI: 10.1002/ajmg.b.32020

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PITX3

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