Article
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).
Annals of neurology - 1 Nov 2010
Kruer Michael C, Paisán-Ruiz Coro, Boddaert Nathalie, Yoon Moon Y, Hama Hiroko, Gregory Allison, Malandrini Alessandro, Woltjer Randall L, Munnich Arnold, Gobin Stephanie, Polster Brenda J, Palmeri Silvia, Edvardson Simon, Hardy John, Houlden Henry, Hayflick Susan J
Abstract excerpt
OBJECTIVE: Neurodegeneration with brain iron accumulation (NBIA) represents a distinctive phenotype of neurodegenerative disease for which several causative genes have been identified. The spectrum of neurologic disease associated with mutations in NBIA genes is broad, with phenotypes that range from infantile neurodegeneration and death in childhood to adult-onset parkinsonism-dystonia. Here we report the...
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