Friedreich's Ataxia - A Clinical Diagnosis

被引：0

作者：

Islam, Md. Fekarul ^{[1
]}

Mukherjee, Devdeep ^{[1
]}

Kundu, Ritabrata ^{[1
]}

Das, Joydeep ^{[1
]}

机构：

[1] Inst Child Hlth, Dept Pediat Med, Kolkata 700017, W Bengal, India

来源：

JOURNAL OF KRISHNA INSTITUTE OF MEDICAL SCIENCES UNIVERSITY | 2015年 / 4卷 / 01期

关键词：

Friedreich's ataxia (FA); Frataxin; trinucleotide repeat;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Friedreich's ataxia (FA) is an autosomal recessive spinocerebellar degenerative disease characterized by hyperexpansion of GAA triplets in Frataxin gene. The hallmark of this disorder is ataxic gait, areflexia, Babinski's sign and positive Romberg test. We report a 9 year old child who presented with all these features and was diagnosed with FA on the basis of these clinical features. There are few case reports of FA where the diagnosis was made so early.

引用

页码：139 / 141

页数：3

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[41] Friedreich's Ataxia Presenting as Isolated Spastic Paraparesis [J].

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Fiorillo, Chiara ;

De Grandis, Domenico ;

Astrea, Guja ;

Perazza, Silvia ;

Filla, Alessandro ;

Santorelli, Filippo M. .

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 2014, 41 (05) :666-668

[42] Safety and Tolerability of Carbamylated Erythropoietin in Friedreich's Ataxia [J].

Boesch, Sylvia ;

Nachbauer, Wolfgang ;

Mariotti, Caterina ;

Sacca, Francesco ;

Filla, Alessandro ;

Klockgether, Thomas ;

Klopstock, Thomas ;

Schoels, Ludger ;

Jacobi, Heike ;

Buechner, Boriana ;

vom Hagen, Jennifer Mueller ;

Nanetti, Lorenzo ;

Manicom, Karen .

MOVEMENT DISORDERS, 2014, 29 (07) :935-939

[43] Friedreich's ataxia: Pathology, pathogenesis, and molecular genetics [J].

Koeppen, Arnulf H. .

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[44] The chemical form of mitochondrial iron in Friedreich's ataxia [J].

Popescu, Bogdan F. Gh. ;

Pickering, Ingrid J. ;

George, Graham N. ;

Nichol, Helen .

JOURNAL OF INORGANIC BIOCHEMISTRY, 2007, 101 (06) :957-966

[45] The Neuropathology of Late-Onset Friedreich’s Ataxia [J].

Arnulf H. Koeppen ;

Jennifer A. Morral ;

Rodney D. McComb ;

Paul J. Feustel .

The Cerebellum, 2011, 10 :96-103

[46] Long range polymerase chain reaction-based diagnosis of Friedreich ataxia in the clinical molecular diagnostics laboratory [J].

Wick, MJ ;

Hagen, VLM ;

Day, JW ;

Gomez, CM ;

McGlennen, RC .

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[47] Targeting the gene in Friedreich ataxia [J].

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[48] Multicellular models of Friedreich ataxia [J].

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[49] Neurobehavioral deficits in the KIKO mouse model of Friedreich's ataxia [J].

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Henderson, Chelsea K. ;

Cortopassi, Gino A. .

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[50] GAA repeat polymorphism in Turkish Friedreich's ataxia patients [J].

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Koc, A. Filiz ;

Kasap, Halil ;

Guzel, A. Irfan ;

Sarica, Yakup ;

Suleymanova, Dilara .

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