Article
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
Brain : a journal of neurology - 1 Jan 2014
Synofzik Matthis, Gonzalez Michael A, Lourenco Charles Marques, Coutelier Marie, Haack Tobias B, Rebelo Adriana, Hannequin Didier, Strom Tim M, Prokisch Holger, Kernstock Christoph, Durr Alexandra, Schöls Ludger, Lima-Martínez Marcos M, Farooq Amjad, Schüle Rebecca, Stevanin Giovanni, Marques Wilson, Züchner Stephan
Abstract excerpt
Boucher-Neuhäuser and Gordon Holmes syndromes are clinical syndromes defined by early-onset ataxia and hypogonadism plus chorioretinal dystrophy (Boucher-Neuhäuser syndrome) or brisk reflexes (Gordon Holmes syndrome). Here we uncover the genetic basis of these two syndromes, demonstrating that both clinically distinct entities are allelic for recessive mutations in the gene PNPLA6. In five of seven...
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