UBQLN2mutation causing heterogeneous X-linked dominant neurodegeneration
نویسندگان
چکیده
منابع مشابه
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.
Neurodegenerative disorders with high iron in the basal ganglia encompass an expanding collection of single gene disorders collectively known as neurodegeneration with brain iron accumulation. These disorders can largely be distinguished from one another by their associated clinical and neuroimaging features. The aim of this study was to define the phenotype that is associated with mutations in...
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Beta-propeller protein-associated neurodegeneration (BPAN) is the most recently identified subtype of neurodegeneration with brain iron accumulation (NBIA), being unique with respect to the underlying disease genetics, the associated clinical presentation, and the suggested pathomechanism. Mutations in X-chromosomal WDR45 arise de novo; however, the dominant pattern of inheritance is unusual fo...
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ژورنال
عنوان ژورنال: Annals of Neurology
سال: 2014
ISSN: 0364-5134
DOI: 10.1002/ana.24164