弗里德赖希共济失调中的延髓下部发育不全：140年后的磁共振成像证实 - Suppr

Lower medulla hypoplasia in Friedreich ataxia: MR Imaging confirmation 140 years later.

作者信息

Mascalchi Mario, Bianchi Andrea, Ciulli Stefano, Ginestroni Andrea, Aiello Marco, Dotti Maria Teresa, Salvi Fabrizio, Nicolai Emanuele, Soricelli Andrea, Diciotti Stefano

机构信息

Neuroscience Centre, "Anna Meyer" Children Hospital, Florence, Italy.

"Mario Serio" Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy.

出版信息

J Neurol. 2017 Jul;264(7):1526-1528. doi: 10.1007/s00415-017-8542-8. Epub 2017 Jun 15.

DOI:10.1007/s00415-017-8542-8

PMID:28620720

Abstract

摘要

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Lower medulla hypoplasia in Friedreich ataxia: MR Imaging confirmation 140 years later.弗里德赖希共济失调中的延髓下部发育不全：140年后的磁共振成像证实

J Neurol. 2017 Jul;264(7):1526-1528. doi: 10.1007/s00415-017-8542-8. Epub 2017 Jun 15.

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J Neurol Neurosurg Psychiatry. 2019 May;90(5):615-617. doi: 10.1136/jnnp-2018-318422. Epub 2018 Jun 26.

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Congenital tetraplegia, respiratory insufficiency, and hypoplasia of medulla oblongata.

Pediatr Neurol. 1994 Mar;10(2):161-3. doi: 10.1016/0887-8994(94)90051-5.

Assessment of brain white matter fiber bundle atrophy in patients with Friedreich ataxia.评估弗里德里希共济失调患者的脑白质纤维束萎缩。

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Pontomedullary disconnection: fetal and neonatal considerations.

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MR imaging of abnormally rotated medulla oblongata, and a criterion for assessment of its normal orientation.

Comput Med Imaging Graph. 1995 Nov-Dec;19(6):477-80. doi: 10.1016/0895-6111(96)00006-7.

Cerebral compensation during motor function in Friedreich ataxia: The IMAGE-FRDA study.弗里德赖希共济失调运动功能中的大脑代偿：IMAGE-FRDA研究

Mov Disord. 2017 Aug;32(8):1221-1229. doi: 10.1002/mds.27023. Epub 2017 May 27.

The importance of MRI in diagnosis of Friedreich ataxia.

Indian J Pediatr. 1994 Nov-Dec;61(6):723-5. doi: 10.1007/BF02751989.

Regional Cerebral Disease Progression in Friedreich's Ataxia: A Longitudinal Diffusion Tensor Imaging Study.弗里德里希共济失调的区域性脑疾病进展：一项纵向弥散张量成像研究。

J Neuroimaging. 2016 Mar-Apr;26(2):197-200. doi: 10.1111/jon.12270. Epub 2015 Jul 14.

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Friedreich Ataxia: Hypoplasia of Spinal Cord and Dorsal Root Ganglia.弗里德赖希共济失调：脊髓和背根神经节发育不全

J Neuropathol Exp Neurol. 2017 Feb 1;76(2):101-108. doi: 10.1093/jnen/nlw111.

Longitudinal magnetic resonance imaging study shows progressive pyramidal and callosal damage in Friedreich's ataxia.磁共振成像纵向研究显示弗里德里希共济失调中锥体束和胼胝体的进行性损伤。

Mov Disord. 2016 Jan;31(1):70-8. doi: 10.1002/mds.26436. Epub 2015 Dec 21.

J Neuroimaging. 2016 Mar-Apr;26(2):197-200. doi: 10.1111/jon.12270. Epub 2015 Jul 14.

Friedreich ataxia: failure of GABA-ergic and glycinergic synaptic transmission in the dentate nucleus.Friedreich 共济失调：齿状核 GABA 能和甘氨酸能突触传递失败。

J Neuropathol Exp Neurol. 2015 Feb;74(2):166-76. doi: 10.1097/NEN.0000000000000160.

Dentate nuclei T2 relaxometry is a reliable neuroimaging marker in Friedreich's ataxia.齿状核T2弛豫测量法是弗里德赖希共济失调中一种可靠的神经影像学标志物。

Eur J Neurol. 2014 Aug;21(8):1131-1136. doi: 10.1111/ene.12448. Epub 2014 Apr 30.

The neuropathology of late-onset Friedreich's ataxia.晚发性弗里德里希共济失调的神经病理学。

Cerebellum. 2011 Mar;10(1):96-103. doi: 10.1007/s12311-010-0235-0.

Assessment of brain white matter fiber bundle atrophy in patients with Friedreich ataxia.评估弗里德里希共济失调患者的脑白质纤维束萎缩。

Radiology. 2010 Jun;255(3):882-9. doi: 10.1148/radiol.10091742.

Friedreich ataxia presenting as sudden cardiac death in childhood: clinical, genetic and pathological correlation, with implications for genetic testing and counselling.Friedreich 共济失调在儿童期表现为心源性猝死：临床、遗传和病理相关性，对遗传检测和咨询有影响。

Neuromuscul Disord. 2010 May;20(5):340-2. doi: 10.1016/j.nmd.2010.02.019. Epub 2010 Mar 24.

Brain structural damage in Friedreich's ataxia.弗里德赖希共济失调的脑结构损伤。

J Neurol Neurosurg Psychiatry. 2008 Jan;79(1):82-5. doi: 10.1136/jnnp.2007.124297. Epub 2007 Jul 18.

Increased iron in the dentate nucleus of patients with Friedrich's ataxia.弗里德里希共济失调患者齿状核中铁含量增加。

Ann Neurol. 1999 Jul;46(1):123-5. doi: 10.1002/1531-8249(199907)46:1<123::aid-ana19>3.0.co;2-h.

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Lower medulla hypoplasia in Friedreich ataxia: MR Imaging confirmation 140 years later.

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