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

共 50 条

[21] Pharmacokinetics and Pharmacodynamics of Nomlabofusp in Non-clinical Studies of Friedreich's Ataxia [J].

De Toni, Flavia ;

Ragaglia, Vanessa ;

Schecter, Devin ;

Miller, Angela S. ;

Gonzalez, Eric ;

Wagner, Erik J. ;

Xu, Xin ;

Payne, R. Mark ;

Mess, Jean-Nicholas ;

Baile, Matthew G. ;

Clements-Egan, Adrienne ;

Shankar, Gopi .

AAPS JOURNAL, 2025, 27 (05)

[22] Herzbeteiligung bei Friedreich-AtaxieHeart involvement in Friedreich’s ataxia [J].

F. Weidemann ;

F. Scholz ;

C. Florescu ;

D. Liu ;

K. Hu ;

S. Herrmann ;

G. Ertl ;

S. Störk .

Herz, 2015, 40 :85-90

[23] Mitochondrial dysfunction in neurons in Friedreich's ataxia [J].

Stepanova, Anna ;

Magrane, Jordi .

MOLECULAR AND CELLULAR NEUROSCIENCE, 2020, 102

[24] Friedreich's ataxia: Past, present and future [J].

Marmolino, Daniele .

BRAIN RESEARCH REVIEWS, 2011, 67 (1-2) :311-330

[25] An Overview of the Ferroptosis Hallmarks in Friedreich's Ataxia [J].

Turchi, Riccardo ;

Faraonio, Raffaella ;

Lettieri-Barbato, Daniele ;

Aquilano, Katia .

BIOMOLECULES, 2020, 10 (11) :1-15

[26] The role of oxidative stress in Friedreich's ataxia [J].

Lupoli, Federica ;

Vannocci, Tommaso ;

Longo, Giovanni ;

Niccolai, Neri ;

Pastore, Annalisa .

FEBS LETTERS, 2018, 592 (05) :718-727

[27] Perspectives on current models of Friedreich's ataxia [J].

Kelekci, Simge ;

Yildiz, Abdullah Burak ;

Sevinc, Kenan ;

Cimen, Deniz Ugurlu ;

Onder, Tamer .

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, 2022, 10

[28] Gene regulation and epigenetics in Friedreich's ataxia [J].

Yandim, Cihangir ;

Natisvili, Theona ;

Festenstein, Richard .

JOURNAL OF NEUROCHEMISTRY, 2013, 126 :21-42

[29] Quantification of Circulating Plasma DNA in Friedreich's Ataxia and Spinocerebellar Ataxia Types 2 and 12 [J].

Swarup, Vishnu ;

Srivastava, Achal K. ;

Padma, Madakasira V. ;

Rajeswari, Moganty R. .

DNA AND CELL BIOLOGY, 2011, 30 (06) :389-394

[30] Friedreich ataxia in Norway – an epidemiological, molecular and clinical study [J].

Iselin Marie Wedding ;

Mette Kroken ;

Sandra Pilar Henriksen ;

Kaja Kristine Selmer ;

Torunn Fiskerstrand ;

Per Morten Knappskog ;

Tone Berge ;

Chantal ME Tallaksen .

Orphanet Journal of Rare Diseases, 10

← 1 2 3 4 5 →