Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

BACKGROUND: Neurodegeneration with brain iron accumulation is a rare neurodegenerative disorder characterized by iron deposition in the basal ganglia and neuroaxonal dystrophy. Familial cases with mutations in the pantothenate kinase gene are associated with a specific phenotype. In contrast, sporadic cases are heterogeneous in their clinical presentation. OBJECTIVE: To describe an atypical case of sporadic late-onset neurodegeneration with brain iron accumulation. DESIGN, SETTING, AND PATIENT: Case report of a patient who presented with psychiatric features at age 22 years followed by progressive gait disturbance, extrapyramidal symptoms, epilepsy, and corticospinal tract involvement. RESULTS: Magnetic resonance imaging showed iron deposition in the globus pallidus and substantia nigra. Cortical biopsy revealed Lewy bodies with predominant alpha-synuclein and less extensive tau-positive neurites. CONCLUSIONS: Our findings in association with previously reported cases suggest that cortical neuritic and Lewy body pathology is a feature of atypical neurodegeneration with brain iron accumulation, clinically characterized by adult onset and psychiatric symptoms. These observations raise the possibility that these cases of atypical neurodegeneration with brain iron accumulation represent a distinct clinicopathological syndrome and suggest a molecular link between iron deposition and alpha-synuclein accumulation.

Original publication




Journal article


Arch Neurol

Publication Date





280 - 282


Adult, Age of Onset, Brain, Female, Humans, Iron, Lewy Bodies, Neurodegenerative Diseases, alpha-Synuclein, tau Proteins