High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism

Neurobiology of Aging
Kenya NishiokaN Hattori

Abstract

Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous disorder, characterized by the accumulation of iron in regions such as the basal ganglia. We enrolled 28 patients with childhood intellectual disability and young-onset parkinsonism (≤40 years at onset) and 4 patients with infantile neuroaxonal dystrophy. All had been clinically diagnosed, and the prevalence of genetic mutations linked to NBIA (PANK2 [exons 1-7], PLA2G6 [exons 2-17], C19orf12 [exons 1-3], WDR45 [exons 2-11], COASY [exons 1-9], FA2H [exons 1-7], and RAB39B [exons 1, 2]) was evaluated. We detected 7 female patients (25.0%, 7 of 28) with de novo heterozygote WDR45 mutations, which are known to be pathogenic for beta-propeller protein-associated neurodegeneration. All 7 patients had common clinical features. Pathogenic mutations in other NBIA genes were not found. We also screened 98 patients with early-onset parkinsonism without intellectual disability and 110 normal controls of Japanese origin for WDR45 mutations. None had WDR45 mutations. Our data suggest a high frequency of beta-propeller protein-associated neurodegeneration mutations in the Japanese population.

References

Apr 30, 2002·Free Radical Biology & Medicine·John W Eaton, Mingwei Qian
Nov 4, 2008·Nature Clinical Practice. Neurology·Claire Henchcliffe, M Flint Beal
May 11, 2010·Trends in Biochemical Sciences·Christian U StirnimannChristoph W Müller
Nov 28, 2012·American Journal of Human Genetics·Tobias B HaackSusan J Hayflick
Dec 28, 2012·Neurology·Penelope HogarthSusan J Hayflick
May 21, 2013·Brain : a Journal of Neurology·Susan J HayflickPenelope Hogarth
Jul 3, 2013·Current Neuropharmacology·Susanne A SchneiderKailash P Bhatia
Dec 24, 2013·American Journal of Human Genetics·Sabrina DusiValeria Tiranti
Mar 13, 2014·Movement Disorders : Official Journal of the Movement Disorder Society·Geetanjali S RathoreAmber J Stocco
May 3, 2014·Neurology. Clinical Practice·Yuta IchinoseYoshihisa Takiyama

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Citations

Dec 31, 2015·Brain : a Journal of Neurology·Darius Ebrahimi-FakhariMustafa Sahin
Jan 8, 2016·Current Neurology and Neuroscience Reports·Susanne A Schneider
Sep 1, 2015·Parkinsonism & Related Disorders·Susanne A Schneider
Apr 1, 2016·Journal of Human Genetics·Mitsuko NakashimaNaomichi Matsumoto
Nov 19, 2015·European Journal of Human Genetics : EJHG·Yuri A ZarateMichael C Kruer
Mar 1, 2018·Movement Disorders : Official Journal of the Movement Disorder Society·Hugo Morales-BriceñoVictor S C Fung
Nov 6, 2018·Brain Sciences·Edward BotsfordEllen E Buckley
Mar 12, 2019·Journal of Inherited Metabolic Disease·Julian TeinertDarius Ebrahimi-Fakhari
Jun 5, 2018·Journal of Movement Disorders·Shen-Yang LimMohamad Imran Idris
Sep 22, 2017·Neurology and Clinical Neuroscience·Hironobu EndoTatsushi Toda
Dec 14, 2016·Neurology. Genetics·DonRaphael P Wynn, Stefan M Pulst
Jul 17, 2020·Frontiers in Neurology·Yujing GaoPaul J Lockhart
Apr 27, 2020·Journal of Neuroradiology. Journal De Neuroradiologie·Yukio KimuraMasayuki Sasaki
Aug 20, 2020·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Anezka BelohlavkovaPavel Krsek
May 8, 2021·Movement Disorders : Official Journal of the Movement Disorder Society·Giulia Di LazzaroKailash P Bhatia
Aug 5, 2021·Developmental Medicine and Child Neurology·Jenny L WilsonSusan J Hayflick
Apr 13, 2021·Autophagy·Yingying CongMario Mauthe

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