Polymicrogyria is an uncommon manifestation in 22q11.2 deletion syndrome

Kawame, Hiroshi; Kurosawa, Kenji; Akatsuka, Akira; Ochiai, Yusuke; Mizuno, Katsumi

doi:10.1002/1096-8628(20000904)94:1<77::aid-ajmg16>3.0.co;2-v

Cited by 26 publications

(15 citation statements)

References 6 publications

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“…This pattern of lower baseline GI among individuals with VCFS was also noted in the same regions during the follow-up visit 3 years later. Qualitative observations of anomalous cortical gyrification, including pachygyria and polymicrogyria in the frontal and parietal regions were among the earliest structural abnormalities reported in individuals with VCFS (Bingham et al, 1998; Bird and Scrambler, 2000; Cramer et al, 1996; Ehara et al, 2000; Ghariani et al, 2002; Kawame et al, 2000; Koolen et al, 2004; Sztriha et al, 2004; Worthington et al, 2000). Schaer et al reported that compared to typically developing individuals, those with VCFS had lower GIs in the frontal (2006) and parietal regions (2006, 2008, 2009).…”

Section: Discussionmentioning

confidence: 94%

Cortical gyrification in velo-cardio-facial (22q11.2 deletion) syndrome: A longitudinal study

Kunwar¹,

Ramanathan²,

Nelson³

et al. 2012

Schizophrenia Research

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Introduction Velocardiofacial syndrome (VCFS) has been identified as an important risk factor for psychoses, with upto 32% of individuals with VCFS developing a psychotic illness. Individuals with VCFS thus form a unique group to identify and explore early symptoms and biological correlates of psychosis. In this study, we examined if cortical gyrification pattern, i.e. gyrification index (GI) can be a potential neurobiological marker for psychosis. Method GIs of 91 individuals with VCFS were compared with 29 siblings and 54 controls. Further, 58 participants with VCFS, 21 siblings and 18 normal controls were followed up after 3 years and longitudinal changes in GI were compared. Additionally, we also correlated longitudinal changes in GI in individuals with VCFS with prodromal symptoms of psychosis on the Scale of Prodromal Symptoms (SOPS). Result Individuals with VCFS had significantly lower GIs as compared to their siblings and normal controls. Longitudinal examination of GI did not reveal any significant group-time interactions between the three groups. Further, longitudinal change in GI scores in the VCFS group was negatively correlated with positive prodromal symptoms, with the left occipital region reaching statistical significance. Conclusion The study confirms previous reports that individuals with VCFS have reduced cortical folding as compared to normal controls. However over a period of three years, there is no difference in the rate of change of GI among both individuals with VCFS and normal controls. Finally, our results suggest that neuroanatomical alterations in areas underlying visual processing may be an early marker for psychosis.

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Section: Discussionmentioning

confidence: 94%

Cortical gyrification in velo-cardio-facial (22q11.2 deletion) syndrome: A longitudinal study

Kunwar¹,

Ramanathan²,

Nelson³

et al. 2012

Schizophrenia Research

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“…The deletion 22q11.2 (DiGeorge or velocardiofacial) syndrome is a common disorder that is associated with many rare manifestations, including PMG in 12 reported patients [Cramer et al, 1996; Bingham et al, 1998; Bird and Scambler, 2000; Kawame et al, 2000; Worthington et al, 2000; Ghariani et al, 2002; Ehara et al, 2003; Koolen et al, 2004; Sztriha et al, 2004]. We recently analyzed clinical data on 21 patients with PMG and deletion 22q11.2 from our subject database and 11 from the literature, finding perisylvian PMG associated with frequent asymmetry, a striking predisposition for the right hemisphere, and often mega‐cisterna magna or mild CVH [Robin et al, 2006].…”

Section: Discussionmentioning

confidence: 99%

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2

Dobyns

Mirzaa

Christian

et al. 2008

American J of Med Genetics Pt A

100

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Polymicrogyria is a malformation of cortical development characterized by loss of the normal gyral pattern, which is replaced by many small and infolded gyri separated by shallow, partly fused sulci, and loss of middle cortical layers. The pathogenesis is unknown, yet emerging data supports the existence of several loci in the human genome. We report on the clinical and brain imaging features, and results of cytogenetic and molecular genetic studies in 29 patients with polymicrogyria associated with structural chromosome rearrangements. Our data map new

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“…While 12 patients with DEL22q11 associated with cortical malformations have now been described in case reports [Cramer et al, 1996; Bingham et al, 1998; Bird and Scambler, 2000; Worthington et al, 2000; Ghariani et al, 2002; Kawame et al, 2000; Ehara et al, 2003; Koolen et al, 2004; Sztriha et al, 2004], the type, location and severity of the cortical malformation, and the presence of associated brain malformations have not been clarified. In a recent trio of Letters to the Editor in this journal, de Wit et al [2005] suggested that the published images in two recent papers [Ehara et al, 2003; Koolen et al, 2004] showed PMG and not pachygyria or combined pachygyria and PMG as stated.…”

Section: Introductionmentioning

confidence: 99%

Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation

Robin

Taylor

McDonald‐McGinn

et al. 2006

American J of Med Genetics Pt A

143

120

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Several brain malformations have been described in rare patients with the deletion 22q11.2 syndrome (DEL22q11) including agenesis of the corpus callosum, pachygyria or polymicrogyria (PMG), cerebellar anomalies and meningomyelocele, with PMG reported most frequently. In view of our interest in the causes of PMG, we reviewed clinical data including brain-imaging studies on 21 patients with PMG associated with deletion 22q11.2 and another 11 from the literature. We found that the cortical malformation consists of perisylvian PMG of variable severity and frequent asymmetry with a striking predisposition for the right hemisphere (P = 0.008). This and other observations suggest that the PMG may be a sequela of abnormal embryonic vascular development rather than a primary brain malformation. We also noted mild cerebellar hypoplasia or mega-cisterna magna in 8 of 24 patients. Although this was not the focus of the present study, mild cerebellar anomalies are probably the most common brain malformation associated with DEL22q11.

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Polymicrogyria is an uncommon manifestation in 22q11.2 deletion syndrome

Cited by 26 publications

References 6 publications

Cortical gyrification in velo-cardio-facial (22q11.2 deletion) syndrome: A longitudinal study

Cortical gyrification in velo-cardio-facial (22q11.2 deletion) syndrome: A longitudinal study

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2

Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation

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