Article
Hot-spot KIF5A mutations cause familial ALS.
Brain : a journal of neurology - 1 Mar 2018
Brenner David, Yilmaz Rüstem, Müller Kathrin, Grehl Torsten, Petri Susanne, Meyer Thomas, Grosskreutz Julian, Weydt Patrick, Ruf Wolfgang, Neuwirth Christoph, Weber Markus, Pinto Susana, Claeys Kristl G, Schrank Berthold, Jordan Berit, Knehr Antje, Günther Kornelia, Hübers Annemarie, Zeller Daniel, Kubisch Christian, Jablonka Sibylle, Sendtner Michael, Klopstock Thomas, de Carvalho Mamede, Sperfeld Anne, Borck Guntram, Volk Alexander E, Dorst Johannes, Weis Joachim, Otto Markus, Schuster Joachim, Del Tredici Kelly, Braak Heiko, Danzer Karin M, Freischmidt Axel, Meitinger Thomas, Strom Tim M, Ludolph Albert C, Andersen Peter M, Weishaupt Jochen H
Abstract excerpt
Heterozygous missense mutations in the N-terminal motor or coiled-coil domains of the kinesin family member 5A (KIF5A) gene cause monogenic spastic paraplegia (HSP10) and Charcot-Marie-Tooth disease type 2 (CMT2). Moreover, heterozygous de novo frame-shift mutations in the C-terminal domain of KIF5A are associated with neonatal intractable myoclonus, a neurodevelopmental syndrome. These findings, together with...
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