The cerebellum looks normal in Friedreich ataxia.
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چکیده
منابع مشابه
جهش جدید هموپلاسمیک T4216C میتوکندریایی در افراد ایرانی مبتلا به بیماری فردریش اتاکسیا
Introduction: The mitochondrial defects in Friedreich ataxia (FRDA) have been reported in many researches. Friedreich ataxia is an autosomal recessive neurodegenerative disorder caused by decreased expression of the Frataxin protein. Frataxin deficiency leads to excessive free radical production and dysfunction of respiratory chain complexes. Mitochondrial DNA (mtDNA) could be considered as a c...
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Episodic ataxias are rare disorders in which periodic episodes of ataxia are separated by normal or near normal motor behaviour. They probably arise from dysfunctional membrane ion channels in the cerebellum. A patient with episodic ataxia EA-2 performed three motor tasks, before, during and after an ataxic episode. In all three tasks there were significant performance deficits during the ataxi...
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Background: Friedreich ataxia (FRDA) is an autosomal recessive disorder caused by guanine-adenine-adenine (GAA) triplet expansions in the FXN gene. Its product, frataxin, which severely reduces in FRDA patients, leads to oxidative damage in mitochondria. The purpose of this study was to evaluate the triple nucleotide repeated expansions in Iranian FRDA patients and to elucidate distinguishable ...
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Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene. We have investigated this mutation in five Brazilian patients: four with typical FRDA findings and one patient with atypical manifestations, who was considered to have some other form of cerebellar ataxia with r...
متن کاملNovel Frataxin Isoforms May Contribute to the Pathological Mechanism of Friedreich Ataxia
Friedreich ataxia (FRDA) is an inherited neurodegenerative disease caused by frataxin (FXN) deficiency. The nervous system and heart are the most severely affected tissues. However, highly mitochondria-dependent tissues, such as kidney and liver, are not obviously affected, although the abundance of FXN is normally high in these tissues. In this study we have revealed two novel FXN isoforms (II...
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عنوان ژورنال:
- AJNR. American journal of neuroradiology
دوره 34 2 شماره
صفحات -
تاریخ انتشار 2013