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Neuroferritinopathy

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Chorea

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Abstract

Neuroferritinopathy is an autosomal-dominant neurodegenerative disorder caused by mutations in the ferritin light chain gene (FTL). The disease is clinically present during adulthood with movement disorders mainly with chorea, dystonia, and parkinsonism and progresses slowly over decades. Cognitive symptoms are often noted after motor signs. On brain magnetic resonance imaging (MRI), the findings are iron deposits in the basal ganglia and cavitation. Neuronal loss in the cerebral cortex, cerebellum, and basal ganglia has been demonstrated in neuropathological studies as well as ferritin inclusion bodies, shown within neurons and glia. As neuroferritinopathy is considered as one of several of neurodegenerative diseases with brain iron accumulation (NBIA), the main differential diagnosis of this disorder is with the other diseases found in this group and with Huntington’s disease. There is no specific treatment to modify the progression of the disease.

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Acknowledgment

We would like to thank Dr. Carlos Zuñiga for providing the MRI images of neuroferritinopathy.

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Authors and Affiliations

  1. Movement Disorders Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, Rua Pedro de Toledo, 980 cj.33, São Paulo, CEP 04039-002, Brazil

    Vanderci Borges & Roberta Arb Saba

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  1. Vanderci Borges
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  2. Roberta Arb Saba
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Correspondence to Vanderci Borges .

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Editors and Affiliations

  1. Parkinson Disease and Movement Disorders Program and Neurology Department, Hospital de Clínicas, José de San Martín, Buenos Aires, Argentina

    Federico E. Micheli

  2. Parkinson's Disease and Movement Disorders Program, Henry Ford West Bloomfield Hospital, West Bloomfield, Michigan, USA

    Peter A. LeWitt

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Borges, V., Saba, R.A. (2014). Neuroferritinopathy. In: Micheli, F., LeWitt, P. (eds) Chorea. Springer, London. https://doi.org/10.1007/978-1-4471-6455-5_9

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  • DOI: https://doi.org/10.1007/978-1-4471-6455-5_9

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