Article
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant.
Orphanet journal of rare diseases - 1 May 2013
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
Abstract excerpt
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, a...
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