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• W1992568176 abstract "Machado–Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is an autosomal dominant neurodegenerative disorder of late onset, which is considered the most common form of SCA worldwide. The main goal of this study was to investigate the presence of segregation ratio distortion (SRD) during transmissions of ATXN3 alleles by MJD patients, evaluating the putative role of SRD in the epidemiological representation of the disease. Sixty-two complete sibships, each with one clinically affected parent, totalling 330 transmissions were selected according to defined criteria and used for segregation analysis. Onset data from MJD patients with Azorean origin was used for residual risk estimates according to different ages. Residual risk values were applied to unaffected offspring to calculate the probability of inheriting the expanded allele. The proportion of offspring that received the expanded or the normal allele from the affected parent was calculated to determine the presence of SRD during transmissions of ATXN3 alleles by MJD patients. Segregation of ATXN3 alleles was in accordance with the expected Mendelian proportions (χ 2 = 0.982, P = 0.322). However, there was a tendency favouring the transmission of the normal alleles. Thus, SRD is not a potential mechanism on the basis of MJD epidemiological representation." @default.
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• W1992568176 date "2008-08-09" @default.
• W1992568176 modified "2023-10-16" @default.
• W1992568176 title "Analysis of segregation patterns in Machado–Joseph disease pedigrees" @default.
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• W1992568176 doi "https://doi.org/10.1007/s10038-008-0330-y" @default.
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