@inbook{b6169b3ff447427790b2f8debb96c5dd,
title = "Pantothenate Kinase-Associated Neurodegeneration (PKAN) and PLA2G6-Associated Neurodegeneration (PLAN). Review of Two Major Neurodegeneration with Brain Iron Accumulation (NBIA) Phenotypes",
abstract = "Neurodegeneration with brain iron accumulation (NBIA) comprises a heterogeneous group of disorders characterized by the presence of radiologically discernible high brain iron, particularly within the basal ganglia. A number of childhood NBIA syndromes are described, of which two of the major subtypes are pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN). PKAN and PLAN are autosomal recessive NBIA disorders due to mutations in PANK2 and PLA2G6, respectively. Presentation is usually in childhood, with features of neurological regression and motor dysfunction. In both PKAN and PLAN, a number of classical and atypical phenotypes are reported. In this chapter, we describe the clinical, radiological, and genetic features of these two disorders and also discuss the pathophysiological mechanisms postulated to play a role in disease pathogenesis.",
keywords = "Neurodegeneration with brain iron accumulation (NBIA), PANK2, PLA2G6",
author = "Kurian, {Manju A.} and Hayflick, {Susan J.}",
note = "Funding Information: We would like to thank the patients and families for their ongoing support for NBIA research, which has allowed detailed characterization of these phenotypes. MAK is funded by the Wellcome Trust and Great Ormond Street Hospital Children's Charity (GOSHCC); SJH is supported by the NBIA Disorders Association and Oregon Clinical and Translational Research Institute (UL1 RR024140 NCRR), a component of the National Institutes of Health (NIH).",
year = "2013",
doi = "10.1016/B978-0-12-410502-7.00003-X",
language = "English (US)",
series = "International Review of Neurobiology",
publisher = "Academic Press Inc.",
pages = "49--71",
booktitle = "International Review of Neurobiology",
}