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

Overview

Journal Mov Disord Clin Pract

Publisher Wiley

Specialty Neurology

Date 2019 Feb 13

PMID 30746416

Citations 10

Authors

Camilla Russo

Anna Ardissone

Elena Freri

Serena Gasperini

Marco Moscatelli

Giovanna Zorzi

Celeste Panteghini

Barbara Castellotti

Barbara Garavaglia

Nardo Nardocci

Luisa Chiapparini

Affiliations

Soon will be listed here.

Abstract

Background And Methods: Mutations in 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 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.

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