De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.

doi:10.1016/j.ajhg.2016.02.015

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Article

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.

American journal of human genetics - 7 Apr 2016

Mencacci Niccolò E, Kamsteeg Erik-Jan, Nakashima Kosuke, R'Bibo Lea, Lynch David S, Balint Bettina, Willemsen Michèl A A P, Adams Matthew E, Wiethoff Sarah, Suzuki Kazunori, Davies Ceri H, Ng Joanne, Meyer Esther, Veneziano Liana, Giunti Paola, Hughes Deborah, Raymond F Lucy, Carecchio Miryam, Zorzi Giovanna, Nardocci Nardo, Barzaghi Chiara, Garavaglia Barbara, Salpietro Vincenzo, Hardy John, Pittman Alan M, Houlden Henry, Kurian Manju A, Kimura Haruhide, Vissers Lisenka E L M, Wood Nicholas W, Bhatia Kailash P

Abstract excerpt

Chorea is a hyperkinetic movement disorder resulting from dysfunction of striatal medium spiny neurons (MSNs), which form the main output projections from the basal ganglia. Here, we used whole-exome sequencing to unravel the underlying genetic cause in three unrelated individuals with a very similar and unique clinical presentation of childhood-onset chorea and characteristic brain MRI showing symmetrical...

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PMID: 27058447
DOI: 10.1016/j.ajhg.2016.02.015
PMCID: PMC4833291

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