β-螺旋桨蛋白相关神经退行性变（BPAN）：来自伊朗的3例新发新型突变患者的首例报告。 - Suppr

Beta-propeller protein associated neurodegeneration (BPAN); the first report of three patients from Iran with de novo novel mutations.

作者信息

Rohani Mohammad, Fasano Alfonso, Akhoundi Fahimeh Haji, Haeri Ghazal, Lang Anthony E, Rahimi Bidgoli Mohammad Masoud, Javanparast Leila, Zamani Babak, Shahidi Gholamali, Alavi Afagh

机构信息

Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran.

Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital and Division of Neurology, University of Toronto, Toronto, Ontario, Canada; Krembil Research Institute, Toronto, Ontario, Canada.

出版信息

Parkinsonism Relat Disord. 2019 Apr;61:231-233. doi: 10.1016/j.parkreldis.2018.11.012. Epub 2018 Nov 13.

DOI:10.1016/j.parkreldis.2018.11.012

PMID:30455156

Abstract

摘要

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Beta-propeller protein associated neurodegeneration (BPAN); the first report of three patients from Iran with de novo novel mutations.

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[De novo mutations in the autophagy gene WDR45 cause SENDA/BPAN].

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Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.

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Early-onset presentation of a new subtype of β-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient.

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Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a Young Female With Mild Cognitive Delay.

Pediatrics. 2015 Sep;136(3):e714-7. doi: 10.1542/peds.2015-0750. Epub 2015 Aug 3.

[A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood].

No To Hattatsu. 2016 May;48(3):209-12.

Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.

Eur J Med Genet. 2017 Oct;60(10):521-526. doi: 10.1016/j.ejmg.2017.07.008. Epub 2017 Jul 12.

A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of .

Tremor Other Hyperkinet Mov (N Y). 2017 Aug 8;7:465. doi: 10.7916/D8251WB0. eCollection 2017.

Neurodegeneration with brain iron accumulation disorder mimics autism.

Pediatr Neurol. 2014 Dec;51(6):862-3. doi: 10.1016/j.pediatrneurol.2014.08.033. Epub 2014 Sep 21.

Basal ganglia calcification in a patient with beta-propeller protein-associated neurodegeneration.

Pediatr Neurol. 2014 Dec;51(6):843-5. doi: 10.1016/j.pediatrneurol.2014.08.017. Epub 2014 Sep 6.

引用本文的文献

Neurodegeneration with brain iron accumulation 5: report of three cases.

Neurogenetics. 2024 Dec 4;26(1):14. doi: 10.1007/s10048-024-00783-7.

Cerebral Iron Deposition in Neurodegeneration.

Biomolecules. 2022 May 17;12(5):714. doi: 10.3390/biom12050714.

, one gene associated with multiple neurodevelopmental disorders.

Autophagy. 2021 Dec;17(12):3908-3923. doi: 10.1080/15548627.2021.1899669. Epub 2021 Apr 12.

Phenotypic and Imaging Spectrum Associated With WDR45.

Pediatr Neurol. 2020 Aug;109:56-62. doi: 10.1016/j.pediatrneurol.2020.03.005. Epub 2020 Mar 11.

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Beta-propeller protein associated neurodegeneration (BPAN); the first report of three patients from Iran with de novo novel mutations.

作者信息

Rohani Mohammad, Fasano Alfonso, Akhoundi Fahimeh Haji, Haeri Ghazal, Lang Anthony E, Rahimi Bidgoli Mohammad Masoud, Javanparast Leila, Zamani Babak, Shahidi Gholamali, Alavi Afagh

机构信息

Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran.

出版信息

Parkinsonism Relat Disord. 2019 Apr;61:231-233. doi: 10.1016/j.parkreldis.2018.11.012. Epub 2018 Nov 13.

DOI:10.1016/j.parkreldis.2018.11.012

PMID:30455156

Abstract

摘要

相似文献

Beta-propeller protein associated neurodegeneration (BPAN); the first report of three patients from Iran with de novo novel mutations.

Parkinsonism Relat Disord. 2019 Apr;61:231-233. doi: 10.1016/j.parkreldis.2018.11.012. Epub 2018 Nov 13.

[De novo mutations in the autophagy gene WDR45 cause SENDA/BPAN].

No To Hattatsu. 2016 May;48(3):177-83.

Am J Med Genet A. 2016 Feb;170A(2):322-328. doi: 10.1002/ajmg.a.37432. Epub 2015 Oct 20.

Early-onset presentation of a new subtype of β-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient.

Eur J Med Genet. 2020 Mar;63(3):103765. doi: 10.1016/j.ejmg.2019.103765. Epub 2019 Sep 16.

Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a Young Female With Mild Cognitive Delay.

Pediatrics. 2015 Sep;136(3):e714-7. doi: 10.1542/peds.2015-0750. Epub 2015 Aug 3.

[A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood].

No To Hattatsu. 2016 May;48(3):209-12.

Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.

Eur J Med Genet. 2017 Oct;60(10):521-526. doi: 10.1016/j.ejmg.2017.07.008. Epub 2017 Jul 12.

A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of .

Tremor Other Hyperkinet Mov (N Y). 2017 Aug 8;7:465. doi: 10.7916/D8251WB0. eCollection 2017.

Neurodegeneration with brain iron accumulation disorder mimics autism.

Pediatr Neurol. 2014 Dec;51(6):862-3. doi: 10.1016/j.pediatrneurol.2014.08.033. Epub 2014 Sep 21.

Basal ganglia calcification in a patient with beta-propeller protein-associated neurodegeneration.

Pediatr Neurol. 2014 Dec;51(6):843-5. doi: 10.1016/j.pediatrneurol.2014.08.017. Epub 2014 Sep 6.

引用本文的文献

Neurodegeneration with brain iron accumulation 5: report of three cases.

Neurogenetics. 2024 Dec 4;26(1):14. doi: 10.1007/s10048-024-00783-7.

Cerebral Iron Deposition in Neurodegeneration.

Biomolecules. 2022 May 17;12(5):714. doi: 10.3390/biom12050714.

, one gene associated with multiple neurodevelopmental disorders.

Autophagy. 2021 Dec;17(12):3908-3923. doi: 10.1080/15548627.2021.1899669. Epub 2021 Apr 12.

Phenotypic and Imaging Spectrum Associated With WDR45.

Pediatr Neurol. 2020 Aug;109:56-62. doi: 10.1016/j.pediatrneurol.2020.03.005. Epub 2020 Mar 11.

Beta-propeller protein associated neurodegeneration (BPAN); the first report of three patients from Iran with de novo novel mutations.

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Beta-propeller protein associated neurodegeneration (BPAN); the first report of three patients from Iran with de novo novel mutations.

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