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Document type:
journal article 
Author(s):
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 
Title:
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. 
Abstract:
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 Boucher-Neuhäuser syndrome/Gordon Holmes syndrome families, we identified nine rare conserved and...    »
 
Journal title abbreviation:
Brain 
Year:
2014 
Journal volume:
137 
Journal issue:
Pt 1 
Pages contribution:
69-77 
Language:
eng 
Print-ISSN:
0006-8950 
TUM Institution:
Institut für Humangenetik