Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant.

Background: We studied a family including two half-siblings, sharing the same mother, affected by slowly progressive, adult-onset neurological syndromes. In spite of the diversity of the clinical features, characterized by a mild movement disorder with cognitive impairment in the elder patient, and...

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Publicado en:	Orphanet Journal of Rare Diseases Vol. 8; no. 1; pp. 66 - 67
Autores principales:	Melchionda, Laura, Fang, Mingyan, Wang, Hairong, Fugnanesi, Valeria, Morbin, Michela, Liu, Xuanzhu, Li, Wenyan, Ceccherini, Isabella, Farina, Laura, Savoiardo, Mario, D'Adamo, Pio, Zhang, Jianguo, Costa, Alfredo, Ravaglia, Sabrina, Ghezzi, Daniele, Zeviani, Massimo
Formato:	case study Journal Article
Publicado:	BioMed Central 2013
Acceso en línea:	Ver este registro en EBSCOhost