objective mitochondrial dna (mtdna) is considered a candidate modifier factor for neuro-degenerative disorders. the most common type of ataxia is friedreich's ataxia (fa). the aim of this study was to investigate different parts of mtdna in 20 iranian fa patients and 80 age-matched controls by polymerase chain reaction (pcr) and automated dna sequencing methods to find any probable point mutati...

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Ataxia is a kind of external characteristics when the human body has poor coordination and balance disorder, it often indicates diseases in certain parts body. Many internal factors may causing ataxia; currently, observed characteristics, combined with Doctor’s personal clinical experience play main roles diagnosing ataxia. In this situation, different kinds be confused, leading to delay treatm...

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 ...

Purpose. Evaluate the diagnostic significance of quantitative determination T- and B-cell receptor DNA ring fragments in peripheral blood patients for diagnosis ataxia-teleangiectasia. Materials methods. The subjects study were samples from 14 diagnosed with ataxia-teleangiectasia aged 4.9 (1.6; 14.4) years mutations ATM gene 40 healthy children 11.0 (6.7; 14.8) years. Results discussion. Patie...

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Introduction. Friedreich?s ataxia (FA) is an autosomal recessive neurodegenerative disease. Ataxia, as the cardinal symptom, affects trunk, with swaying, imbalance, and falls, well limbs, increasing difficulty in activities of daily living. Physical therapy has been recognized a means managing physical symptoms maximizing function affected persons. To our knowledge, there are no studies that ha...

Introduction: Purkinje Cell (PC) output displays a complex firing pattern consisting of high frequency sodium spikes and low frequency calcium spikes, and disruption in this firing behavior may contribute to cerebellar ataxia. Riluzole, neuroprotective agent, has been demonstrated to have neuroprotective effects in cerebellar ataxia. Here, the spectral analysis of PCs firing in control, 3-acety...

Background: Multiple Sclerosis (MS) is a demyelinating disorder of the central nervous system. Tremors are a common problem in the patients suffering from MS which is mostly observed in the arms but can also affect the other body parts. There have been few studies on tremors among the MS patients.  Objectives: This study is the first to report the prevalence of tremor in a group of MS pat...

Ataxia-telangiectasia-like disorder 1 (ATLD1) is a rare neurodegenerative associated with early onset ataxia and oculomotor apraxia. The genetic determination of ATLD1 mutation in the MRE11 gene (meiotic recombination 11 gene), which causes DNA-double strand break repair deficits. Clinical features patients resemble those telangiectasia (AT), slower progression milder presentation. Main symptom...