The genomic basis of cerebral palsy: a HuGE systematic literature review

O’Callaghan, Michael; MacLennan, Alastair H.; Haan, Eric; Dekker, Gustaaf A.

doi:10.1007/s00439-009-0638-5

Cited by 55 publications

(42 citation statements)

References 82 publications

(93 reference statements)

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“…8,9 SNP association studies have been reported but have provided inconclusive results because of small sample sizes. 10 A genetic linkage study mapped an autosomal recessive type of spastic CP to a locus on chromosome 2p24-25 11 and subsequently, a missense variant was found in the GAD1 gene, which segregated with the CP phenotype (LOD score 5.75). 12 However, the functional effect of this variant was not assessed and no GAD1 variants have since been found in other individuals with CP.…”

Section: Introductionmentioning

confidence: 99%

Rare copy number variation in cerebral palsy

et al. 2013

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Recent studies have established the role of rare copy number variants (CNVs) in several neurological disorders but the contribution of rare CNVs to cerebral palsy (CP) is not known. Fifty Caucasian families having children with CP were studied using two microarray designs. Potentially pathogenic, rare (o1% population frequency) CNVs were identified, and their frequency determined, by comparing the CNVs found in cases with 8329 adult controls with no known neurological disorders. Ten of the 50 cases (20%) had rare CNVs of potential relevance to CP; there were a total of 14 CNVs, which were observed in o0.1% (o8/8329) of the control population. Eight inherited from an unaffected mother: a 751-kb deletion including FSCB, a 1.5-Mb duplication of 7q21.13, a 534-kb duplication of 15q11.2, a 446-kb duplication including CTNND2, a 219-kb duplication including MCPH1, a 169-kb duplication of 22q13.33, a 64-kb duplication of MC2R, and a 135-bp exonic deletion of SLC06A1. Three inherited from an unaffected father: a 386-kb deletion of 12p12.2-p12.1, a 234-kb duplication of 10q26.13, and a 4-kb exonic deletion of COPS3. The inheritance was unknown for three CNVs: a 157-bp exonic deletion of ACOX1, a 693-kb duplication of 17q25.3, and a 265-kb duplication of DAAM1. This is the first systematic study of CNVs in CP, and although it did not identify de novo mutations, has shown inherited, rare CNVs involving potentially pathogenic genes and pathways requiring further investigation.

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Section: Introductionmentioning

confidence: 99%

Rare copy number variation in cerebral palsy

et al. 2013

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“…The genetic influences affecting CP have been the subject of much attention in recent years. [10][11][12]20,21 Several genes have been identified as risk factors, and have been categorized as thrombophilic, cytokine, apolipoprotein E and a group related to cardiovascular physiology and the functioning of the immune system. 21 Among the candidate genes, several SNPs of the MTHFR genes have been investigated either in normal populations or CP patients.…”

Section: Discussionmentioning

confidence: 99%

Methylenetetrahydrofolate reductase gene polymorphisms and cerebral palsy in Chinese infants

Xiao

Wang

et al. 2010

J Hum Genet

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Genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) have been suggested as being associated with cerebral palsy (CP) but the evidence is uncertain. The purpose of this study was to investigate whether MTHFR gene polymorphisms contribute to the development of CP in Chinese infants. For this study, 169 health controls and 159 infants with CP including 43 cases also suffering from mental retardation (MR) were recruited. Genomic DNA was prepared from venous blood and all five single nucleotide polymorphisms in MTHFR (rs4846049, rs1476413, rs1801131, rs1801133 and rs9651118) were genotyped using TaqMan technology. There were no significant differences in allele or genotype frequencies between the CP patients and controls at any of the five genetic polymorphisms. Subgroup analysis found statistically significant difference in allele and genotype frequencies between cases with both CP and MR (CP + MR) compared with both CP-only cases and controls at rs4846049, rs1476413 and rs1801131. The frequencies of the T alleles of rs4846049, rs1476413 and the G allele of rs1801131 were greater in the CP + MR patients than in the CP-only patients and controls. This study provides the first evidence pointing to a MTHFR gene polymorphism as a potential risk factor for CP combined with MR.

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“…Methods by Vojta and Bobath concept belong to universally known approached for rehabilitation. Method by Semenova has been also recognized in Europe [19] (Russia) -which consisted in use of anti-gravitation suits as well as the method after prof. Kozyavkin [20] (Ukraine) -a system of intensive neurophysiology rehabilitation.…”

Section: Introductionmentioning

confidence: 99%