Neurol. praxi. 2016;17(5):328-332 | DOI: 10.36290/neu.2016.068

NBIA – neurodegeneration with brain iron accumulation

MUDr. Lenka Hvizdošová1, MUDr. Michaela Kaiserová, Ph.D.1, prof. MUDr. Petr Kaňovský, CSc.1, doc. MUDr. Marek Baláž, Ph.D.2
1 Neurologická klinika FN a LF UP Olomouc
2 1. neurologická klinika LF MU a FN u sv. Anny, Brno

Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of genetically-linked neurodegenerative diseases characterized by increased iron accumulation in the basal ganglia. They present with a combination of extrapyramidal symptoms with deterioration of cognitive functions. In most cases, they are diseases with onset in childhood, but adult-onset or late-onset forms are also described. In this paper, we present an overview of recent data on individual types of NBIA with an emphasis on clinical and radiologic findings. In conclusion, we describe a case of a patient with suspected late-onset NBIA.

Keywords: neurodegeneration with brain iron accumulation, pantothenat kinase – associated neurodegeneration, phospholipase

Published: November 7, 2016  Show citation

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Hvizdošová L, Kaiserová M, Kaňovský P, Baláž M. NBIA – neurodegeneration with brain iron accumulation. Neurol. praxi. 2016;17(5):328-332. doi: 10.36290/neu.2016.068.

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    References

    1. Agopiantz M, Corbonnois P, Sorlin A, et al. Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature. Journal of Endocrinological Investigation. 2014; 37(1): 1-7. Go to original source... Go to PubMed...
    2. Haack T, Hogarth P, Gregory A, Prokisch H, Hayflick S. BPAN: The Only X-Linked Dominant NBIA Disorder. International Review of Neurobiology. 2013; 110(4): 85-90. Go to original source... Go to PubMed...
    3. Hogarth P. Neurodegeneration with brain iron accumulation: diagnosis and management. Journal of Movement Disorders. 2015; 8(1): 1-13. Go to original source... Go to PubMed...
    4. Levi S, Rovida E. Neuroferritinopathy: from ferritin structure modification to pathogenetic mechanism. Neurobiology of Disease. 2015; 81: 134-143. Go to original source... Go to PubMed...
    5. Poplawska-Domaszewicz K, Florczak-Wyspianska J, Kozubski W. Update on neurodegeneration with brain iron accumulation. Neurologia i Neurochirurgia Polska. 2014; 48(3): 206-213. Go to original source... Go to PubMed...
    6. Schneider S. Neurodegeneration with brain iron accumulation. Current Neurology and Neuroscience Reports. 2016; 16(1). Go to original source... Go to PubMed...
    7. Schneider S, Bhatia K. Syndromes of neurodegeneration with brain iron accumulation. Seminars in Pediatric Neurology. 2012; 19(2): 57-66. Go to original source... Go to PubMed...
    8. Schneider S, Hardy J, Bhatia K. Syndromes of neurodegeneration with brain iron accumulation (NBIA): An update on clinical presentations, histological and genetic underpinnings, and treatment considerations. Mov Disord. 2011;27(1):42-53. Go to original source... Go to PubMed...
    9. Tonekaboni SH, Mollamohammadi M. Neurodegeneration with brain iron accumulation: An overview. Iran J Child Neurol. 2014 Autumn; 8(4): 1-8.

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