舞蹈病-棘红细胞增多症磁共振成像中的矿物质沉积：与泛酸激酶相关神经变性有致病联系？ - Suppr

Mineral deposition on magnetic resonance imaging in chorea-acanthocytosis: a pathogenic link with pantothenate kinase-associated neurodegeneration?

作者信息

Kaul Bhavna, Goyal Vinay, Shukla Garima, Srivastava Achal, Garg Ajay, Bader Benedikt, Danek Adrian, Hayflick Susan, Behari Madhuri

出版信息

Neurol India. 2013 Mar-Apr;61(2):169-70. doi: 10.4103/0028-3886.111129.

DOI:10.4103/0028-3886.111129

PMID:23644319

Abstract

摘要

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Mineral deposition on magnetic resonance imaging in chorea-acanthocytosis: a pathogenic link with pantothenate kinase-associated neurodegeneration?

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Mineral deposition on magnetic resonance imaging in chorea-acanthocytosis: a pathogenic link with pantothenate kinase-associated neurodegeneration?

作者信息

Kaul Bhavna, Goyal Vinay, Shukla Garima, Srivastava Achal, Garg Ajay, Bader Benedikt, Danek Adrian, Hayflick Susan, Behari Madhuri

出版信息

Neurol India. 2013 Mar-Apr;61(2):169-70. doi: 10.4103/0028-3886.111129.

DOI:10.4103/0028-3886.111129

PMID:23644319

Abstract

摘要

相似文献

Mineral deposition on magnetic resonance imaging in chorea-acanthocytosis: a pathogenic link with pantothenate kinase-associated neurodegeneration?

Neurol India. 2013 Mar-Apr;61(2):169-70. doi: 10.4103/0028-3886.111129.

Pantothenate-kinase associated neurodegeneration (PKAN) "eye of the tiger" sign.

Pediatr Neurol. 2007 Jan;36(1):70-1. doi: 10.1016/j.pediatrneurol.2006.09.005.

A novel PANK2 gene mutation in a Persian boy: the first report from Iran.

Clin Neurol Neurosurg. 2013 Jul;115(7):1170-2. doi: 10.1016/j.clineuro.2012.10.004. Epub 2012 Oct 30.

Neuroacanthocytosis: a case report of chorea-acanthocytosis.

J Integr Neurosci. 2019 Jun 30;18(2):197-201. doi: 10.31083/j.jin.2019.02.165.

Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration.

Mov Disord. 2004 Jan;19(1):36-42. doi: 10.1002/mds.10650.

Chorea-acanthocytosis with upper motor neuron degeneration and 3419_3420 delCA and 3970_3973 delAGTC VPS13A mutations.

Acta Neuropathol. 2010 Feb;119(2):271-3. doi: 10.1007/s00401-009-0617-x. Epub 2009 Dec 1.

Images in neurology. Neurodegeneration with pantothenate kinase syndrome: retinal and magnetic resonance imaging findings.

Arch Neurol. 2009 Jun;66(6):798-9. doi: 10.1001/archneurol.2009.64.

Magnetic resonance imaging and Hallervorden-Spatz syndrome.

CNS Spectr. 2003 Jun;8(6):420. doi: 10.1017/s109285290001871x.

[Neuroacanthocytosis update].

Brain Nerve. 2008 Jun;60(6):635-41.

First cases in the Czech Republic of the Hallervorden-Spatz disease resulting from mutation in the pantothenate kinase 2 gene.

Neuro Endocrinol Lett. 2005 Jun;26(3):213-8.

引用本文的文献

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Neuroophthalmology. 2024 Jul 17;49(1):17-34. doi: 10.1080/01658107.2024.2379423. eCollection 2025.

Chorein deficiency promotes ferroptosis.

FEBS Open Bio. 2025 Jan;15(1):58-68. doi: 10.1002/2211-5463.13870. Epub 2024 Nov 8.

Clinical Features and Novel Pathogenic Variants of Chinese Patients With McLeod Syndrome and Chorea-Acanthocytosis.

Mol Genet Genomic Med. 2024 Sep;12(9):e70015. doi: 10.1002/mgg3.70015.

Two case reports of chorea-acanthocytosis and review of literature.

Eur J Med Res. 2022 Feb 7;27(1):22. doi: 10.1186/s40001-022-00646-7.

Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes.

J Mov Disord. 2015 May;8(2):41-54. doi: 10.14802/jmd.15009. Epub 2015 May 31.

Mineral deposition on magnetic resonance imaging in chorea-acanthocytosis: a pathogenic link with pantothenate kinase-associated neurodegeneration?

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Mineral deposition on magnetic resonance imaging in chorea-acanthocytosis: a pathogenic link with pantothenate kinase-associated neurodegeneration?

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