Gaa Repeat Polymorphism in Turkish Friedreich's Ataxia Patients

Yılmaz, Mustafa; Koç, Ayşe Filiz; Kasap, Halil; Güzel, Ali İrfan; Sarıca, Yakup; Süleymanova, Dilara

doi:10.1080/00207450600592099

Cited by 3 publications

(2 citation statements)

References 20 publications

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“…FA patients living in almost the same geographic area as those of this study were previously studied by Yilmaz et al (10).…”

Section: Introductionmentioning

confidence: 87%

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Mutation analysis of 6 spinocerebellar ataxia (SCA) types in patients from southern Turkey

Pazarcı¹,

Kasap²,

Koç³

et al. 2015

Turk J Med Sci

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Background/aim: Spinocerebellar ataxias (SCAs) are complex clinical and genetically heterogeneous, mostly autosomal dominant neurodegenerative diseases. At present, more than 30 hereditary SCA types have been associated with different gene mutations. In this study, the frequency distribution of the 6 SCA types 1, 2, 3, 6, 7, and 17 in the Turkish population was investigated with respect to clinical features.Materials and methods: 159 patients who received a diagnosis of SCA and 42 healthy controls from Adana, Mersin, Gaziantep, Hatay, and Osmaniye provinces were included in the study. DNA samples were isolated from 2 mL blood samples and the number of trinucleotide repeats (TNRs) for each SCA type was detected using PCR-RFLP technique and sequencing.Results: Of the 6 SCA types that were studied, 4 types, SCA 1, 3, 7, and 17, were positive and all heterozygous for expansions. SCA types 1 and 17 had higher frequencies, 4.4% and 3.8%, respectively, than SCA types 3 and 7. The clinical data of patients were also evaluated to correlate with the increased TNR numbers. Conclusion:This study, being the first mutation record of SCAs in this area, indicated that 9.4% of cases belonged to 4 types, SCA 1, 3, 7, and 17.

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“…FA patients living in almost the same geographic area as those of this study were previously studied by Yilmaz et al (10).…”

Section: Introductionmentioning

confidence: 87%

“…Another complex neurodegenerative disease caused by trinucleotide expansion mutations that occur in the coding regions is Friedrich's ataxia (FA), which is known to have very similar symptoms to those of SCA. FA patients living in almost the same geographic area as those of this study were previously studied by Yilmaz et al (10).…”

Section: Introductionmentioning

confidence: 95%

Mutation analysis of 6 spinocerebellar ataxia (SCA) types in patients from southern Turkey

Pazarcı¹,

Kasap²,

Koç³

et al. 2015

Turk J Med Sci

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Childhood hereditary ataxias: experience from a tertiary referral university hospital in Turkey

et al. 2017

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Hereditary ataxias are a group of genetic disorders that are progressive and heterogeneous. The purpose of this study was to develop a practical and time-efficient approach to diagnosing childhood hereditary ataxias by analyzing characteristics and final diagnosis at a tertiary referral clinic for pediatric neurology. 196 patients admitted to the pediatric neurology department were included. The medical records were examined for demographic features, neurological, laboratory, electrophysiological, cranial imaging, and pathological findings, and for genetic studies. Patients were divided into two groups based on whether a final diagnosis was made. The undiagnosed and diagnosed groups consisted of 157 (81.1%) and 39 (19.9%) patients, respectively. The two groups differed in terms of levels of history of consanguineous marriage and mental and motor development before diagnosis, absence of deep tendon reflexes, and the presence of polyneuropathic changes detected by electromyelography (EMG), abnormal visual evoked potentials (VEPs), electroretinography (ERG), and muscle biopsy. To the best of our knowledge, this is the first study involving a large spectrum of diseases related to autosomal recessive ataxias in childhood in Turkey. One out of five patients with hereditary childhood ataxias can be diagnosed with clinical and laboratory and electrodiagnostic examination, especially with the help of imaging facilities, while genetic analysis is not possible for every child. Cranial magnetic resonance imaging followed by EMG provides the most important clues for the diagnosis of hereditary childhood ataxias.

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Determination of Genotypic and Phenotypic Characteristics of Friedreich’s Ataxia and Autosomal Dominant Spinocerebellar Ataxia Types 1, 2, 3, and 6

Boz

Koç

Sel

et al. 2016

Arch Neuropsychiatr

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Gaa Repeat Polymorphism in Turkish Friedreich's Ataxia Patients

Cited by 3 publications

References 20 publications

Mutation analysis of 6 spinocerebellar ataxia (SCA) types in patients from southern Turkey

Mutation analysis of 6 spinocerebellar ataxia (SCA) types in patients from southern Turkey

Childhood hereditary ataxias: experience from a tertiary referral university hospital in Turkey

Determination of Genotypic and Phenotypic Characteristics of Friedreich’s Ataxia and Autosomal Dominant Spinocerebellar Ataxia Types 1, 2, 3, and 6

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