Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β‐Propeller Protein‐Associated Neurodegeneration

BACKGROUND AND METHODS: Mutations in WDR45 cause β‐propeller protein‐associated neurodegeneration (BPAN), a type of neurodegeneration with brain iron accumulation (NBIA). We reviewed clinical and MRI findings in 4 patients with de novo WDR45 mutations. RESULTS: Psychomotor delay and movement disorde...

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Detalles Bibliográficos
Publicado en:Mov Disord Clin Pract
Main Authors: Russo, Camilla, Ardissone, Anna, Freri, Elena, Gasperini, Serena, Moscatelli, Marco, Zorzi, Giovanna, Panteghini, Celeste, Castellotti, Barbara, Garavaglia, Barbara, Nardocci, Nardo, Chiapparini, Luisa
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley and Sons Inc. 2018
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Research Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6335537/
https://ncbi.nlm.nih.gov/pubmed/30746416
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mdc3.12693
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