Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic diseases characterized by progressive extrapyramidal symptoms and focal iron accumulation in the basal ganglia. β-Propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood or NBIA 5, is an X-linked dominant subtype of NBIA.1 Brain MRI stud...

Mutations in WDR45 gene, coding for a beta-propeller protein, have been found in patients affected by Neurodegeneration with Brain Iron Accumulation, NBIA5 (also known as BPAN). BPAN is a movement disorder with Non Transferrin Bound Iron (NTBI) accumulation in the basal ganglia as common hallmark between NBIA classes (Hayflick et al., 2013). WDR45 has been predicted to have a role in autophagy,...

Hallervorden Spatz disease is a rare disorder characterized by progressive extrapyramidal dysfunction. We report a case of a 18 year old boy who presented with cervical dystonia, pigmentary retinal degeneration and MRI brain showing the "eye-of-the-tiger" appearance. Renamed recently as "Neurodegeneration with brain iron accumulation", we present this case for its rarity and interesting features.

Background. Iron is considered to lead to neurodegeneration and has been hypothesized as a possible cause of Parkinson's disease (PD). Susceptibility-weighted imaging (SWI) is a powerful tool to measure phase related iron content of brain. Methods. Twelve de novo patients with PD were recruited from the Movement Disorders Clinic, Department of Neurology, Loma Linda University. Twelve age- and s...

A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging Uma orientação diagnóstica para neurodegeneração com acúmulo cerebral de ferro: aspectos clínicos, genéticos e de neuroimagem Rubens Paulo Araújo Salomão1, José Luiz Pedroso1, Maria Thereza Drumond Gama1, Lívia Almeida Dutra1, Ricardo Horta Maciel2, Clécio Godeiro-Junior3, Hsi...

Static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) is an X-linked dominant neurodegenerative disorder, and is classified as a subtype of neurodegeneration with brain iron accumulation. Recently, de novo heterozygous mutations in WDR45 at Xp11.23 have been reported in patients with SENDA. We report the clinical and neuroradiological findings of a patient with SENDA wi...