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Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β‐Propeller Protein‐Associated Neurodegeneration
Author(s) -
Russo Camilla,
Ardissone Anna,
Freri Elena,
Gasperini Serena,
Moscatelli Marco,
Zorzi Giovanna,
Panteghini Celeste,
Castellotti Barbara,
Garavaglia Barbara,
Nardocci Nardo,
Chiapparini Luisa
Publication year - 2019
Publication title -
movement disorders clinical practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.754
H-Index - 18
ISSN - 2330-1619
DOI - 10.1002/mdc3.12693
Subject(s) - dentate nucleus , hyperintensity , globus pallidus , putamen , neurodegeneration , pathology , substantia nigra , medicine , atrophy , magnetic resonance imaging , dystonia , movement disorders , basal ganglia , neuroscience , psychology , cerebellum , parkinson's disease , radiology , disease , central nervous system
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 disorders were present in all cases; early‐onset epileptic encephalopathy was present in 3. In all cases, first MRI showed: prominent bilateral SN enlargement, bilateral dentate nuclei T2‐hyperintensity, and corpus callosum thinning. Iron deposition in the SN and globus pallidus (GP) only became evident later. Diffuse cerebral atrophy was present in 3 cases. Conclusions In this series, SN swelling and dentate nucleus T2 hyperintensity were early signs of BPAN, later followed by progressive iron deposition in the SN and GP. When clinical suspicion is raised, MRI is crucial for identifying early features suggesting this type of NBIA.