Article
Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Jul 2011
Tomiyasu Akiyuki, Nakamura Masayuki, Ichiba Mio, Ueno Shuichi, Saiki Shinji, Morimoto Mizuki, Kobal Jan, Kageyama Yasufumi, Inui Toshio, Wakabayashi Koichi, Yamada Tatsuo, Kanemori Yuji, Jung Hans H, Tanaka Haruhiko, Orimo Satoshi, Afawi Zaid, Blatt Ilan, Aasly Jan, Ujike Hiroshi, Babovic-Vuksanovic Dusica, Josephs Keith A, Tohge Rie, Rodrigues Guilherme Riccioppo, Dupré Nicolas, Yamada Hidetaka, Yokochi Fusako, Kotschet Katya, Takei Takanobu, Rudzińska Monika, Szczudlik Andrzej, Penco Silvana, Fujiwara Masaki, Tojo Kana, Sano Akira
Abstract excerpt
Chorea-acanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disorder caused by loss of function mutations in the vacuolar protein sorting 13 homolog A (VPS13A) gene that encodes chorein. It is characterized by adult-onset chorea, peripheral acanthocytes, and neuropsychiatric symptoms. In the present study, we performed a comprehensive mutation screen, including sequencing and copy number...
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