A Chromosomal Study on 100 Cases of Cerebral Palsy

Watanabe, Yoshimasa; Saito, Toshihide; Sawano, Kunihiko; Minatozaki, Kazunori; Kadotani, Tetsuji

doi:10.1080/09723757.2001.11885743

Cited by 4 publications

(3 citation statements)

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“…Our genome-wide analysis yields new results indicating that large chromosomal abnormalities can be involved in CP. Prompted by our observations, we found deep in the literature an earlier study that used karyotyping to identify chromosomal anomalies in 8/100 (8%) individuals with CP 29 . The role of these anomalies in the pathogenicity of CP would require further assessment since in 6/8 cases the rearrangements were balanced or inherited, and one had 46, XYY aneuploidy, which is not known to be associated with CP.…”

Section: Discussionmentioning

confidence: 68%

Clinically relevant copy number variations detected in cerebral palsy

et al. 2015

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Cerebral palsy (CP) represents a group of non-progressive clinically heterogeneous disorders that are characterized by motor impairment and early age of onset, frequently accompanied by co-morbidities. The cause of CP has historically been attributed to environmental stressors resulting in brain damage. While genetic risk factors are also implicated, guidelines for diagnostic assessment of CP do not recommend for routine genetic testing. Given numerous reports of aetiologic copy number variations (CNVs) in other neurodevelopmental disorders, we used microarrays to genotype a population-based prospective cohort of children with CP and their parents. Here we identify de novo CNVs in 8/115 (7.0%) CP patients (∼1% rate in controls). In four children, large chromosomal abnormalities deemed likely pathogenic were found, and they were significantly more likely to have severe neuromotor impairments than those CP subjects without such alterations. Overall, the CNV data would have impacted our diagnosis or classification of CP in 11/115 (9.6%) families.

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Section: Discussionmentioning

confidence: 68%

Clinically relevant copy number variations detected in cerebral palsy

et al. 2015

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“…Though maternal age is often mentioned in the literature on the effect of social-demographic factors on the risk of cerebral palsy, there aren't unequivocal estimates of the effect of paternal age on the probability of the condition. With the technological development and the advent of new techniques of molecular cytogenetics and molecular biology, it has become possible to tie paternal age with the occurrence of de novo mutations which may have causal links to children's diseases or abortions (Carothers et al 1986;Kadotani et al 2001;Slama et al 2005;Zhu et al 2008).…”

Section: Discussionmentioning

confidence: 99%

“…The available epidemiological studies provide little information on the effect of paternal age on the probability of cerebral palsy (Fletcher and Foley 1993;Kadotani et al 2001). A few previous studies (Fletcher and Foley 1993;Kadotani et al 2001) found detrimental effects of advanced paternal age on cerebral palsy in their children, but they didn't investigate association between teenaged fathers and cerebral palsy. Whether such association occurs is an empirical question that has not been explored.…”

Section: Discussionmentioning

confidence: 99%

Paternal age and the risk of cerebral palsy

Sternal

Kwiatkowska

Borysławski

et al. 2020

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In the literature there are no unequivocal assessments of the effect of paternal age on the risk of cerebral palsy (CP). The objective of the studies was the analysis of the influence of paternal age on this risk, considering all the important risk factors and division into singleton and twin, as well as term- and preterm-born infants. The inquiry included a group of 278 children with cerebral palsy from selected education-therapeutic institutions in Poland. The control group consisted of the data from medical records of 435 neonates born in God’s Mercy Hospital in Limanowa, Poland. The data were based on a questionnaire designed to obtain information which would make it possible to ascertain the probable etiological factors. Constructed models of logistic regression were used in statistical analysis. The results were presented as the odds ratio (OR) with 95% confidence interval (CI). Though the estimation with a complex model of logistic regression showed no significant effect of paternal age on the occurrence of cerebral palsy, it confirmed it as a stronger predictor compared to maternal age. Disregarding paternal of age while considering maternal age and other risk factors may lead to a bias in the estimations of the risk cerebral palsy.

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De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy

Zarrei

Fehlings

Mawjee

et al. 2018

Genetics in Medicine

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PurposeHemiplegia is a subtype of cerebral palsy (CP) in which one side of the body is affected. Our earlier study of unselected children with CP demonstrated de novo and clinically relevant rare inherited genomic copy-number variations (CNVs) in 9.6% of participants. Here, we examined the prevalence and types of CNVs specifically in hemiplegic CP.MethodsWe genotyped 97 unrelated probands with hemiplegic CP and their parents. We compared their CNVs to those of 10,851 population controls, in order to identify rare CNVs (<0.1% frequency) that might be relevant to CP. We also sequenced exomes of “CNV-positive” trios.ResultsWe detected de novo CNVs and/or sex chromosome abnormalities in 7/97 (7.2%) of probands, impacting important developmental genes such as GRIK2, LAMA1, DMD, PTPRM, and DIP2C. In 18/97 individuals (18.6%), rare inherited CNVs were found, affecting loci associated with known genomic disorders (17p12, 22q11.21) or involving genes linked to neurodevelopmental disorders.ConclusionWe found an increased rate of de novo CNVs in the hemiplegic CP subtype (7.2%) compared to controls (1%). This result is similar to that for an unselected CP group. Combined with rare inherited CNVs, the genomic data impacts the understanding of the potential etiology of hemiplegic CP in 23/97 (23.7%) of participants.

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A Chromosomal Study on 100 Cases of Cerebral Palsy

Cited by 4 publications

References 0 publications

Clinically relevant copy number variations detected in cerebral palsy

Clinically relevant copy number variations detected in cerebral palsy

Paternal age and the risk of cerebral palsy

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy

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