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Dokumenttyp:
journal article 
Autor(en):
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 
Titel:
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...    »
 
Zeitschriftentitel:
Brain 
Jahr:
2014 
Band / Volume:
137 
Heft / Issue:
Pt 1 
Seitenangaben Beitrag:
69-77 
Sprache:
eng 
Print-ISSN:
0006-8950 
TUM Einrichtung:
Institut für Humangenetik