Hypoplasia of the cerebellar vermis in neurogenetic syndromes

Schaefer, Gerald; Thompson, James N.; Bodensteiner, John B.; McConnell, James M.; Kimberling, William J.; Gay, Charles T.; Dutton, William D.; Hutchings, D. C.; Gray, Stanton B.

doi:10.1002/ana.410390316

Cited by 67 publications

(33 citation statements)

References 8 publications

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“…A size reduction of the posterior vermis was not exclusively found in a subset of patients with autism, but also in a percentage of patients suffering from neurogenetic syndromes without autistiform features. 31 We studied here the neuroanatomy of a fragile X mouse model in living animals. The advantage of MRI recordings of living mice is that fixation artefacts are avoided and that the development of specific brain structures can be registered at several time points in the life of the same mouse.…”

Section: Discussionmentioning

confidence: 99%

Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging

et al. 1999

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Magnetic resonance imaging (MRI) of the brain of fragile X patients, the most frequent form of inherited mental retardation, has revealed abnormalities in the size of specific brain structures, including the cerebellar vermis, the hippocampus, and the ventricular system. We intended to quantify the differences observed in the patient studies in the fragile X knockout mouse model, which is a good model for the disease, paralleling the human disorder in having cognitive deficits, macro-orchidism, and immature dendritic spines. Therefore we set up MRI of the mouse brain which allowed us to measure the size of the brain structures reported to be abnormal in human fragile X patients in the mouse model. We did not find evidence for size alterations in various brain regions of the fragile X mouse model, but the method described may find a wide application in the study of mutant mouse models with neurological involvement.

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Section: Discussionmentioning

confidence: 99%

Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging

et al. 1999

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“…Neuroimaging studies of the cerebellum in autism have been inconsistent (Acosta & Pearl, 2004). Some researchers have found smaller cerebellar measurements, particularly in the vermis (Courchesne, 1991(Courchesne, , 1997(Courchesne, , 1999Courchesne et al, 2001;Courchesne et al, 1989;Courchesne et al, 1994Courchesne et al, , 1995Hashimoto et al, 1993;Murakami et al, 1989;Schaefer et al, 1996). One study found a significant increase in unadjusted cerebellar volume in autism, but the difference did not remain significant once total brain volume was controlled for (Herbert et al, 2003).…”

Section: Hb Cleavinger Et Almentioning

confidence: 99%

Quantitative magnetic resonance image analysis of the cerebellum in macrocephalic and normocephalic children and adults with autism

Cleavinger

Bigler

Johnson

et al. 2008

J Inter Neuropsych Soc

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A detailed morphometric analysis of the cerebellum in autism with and without macrocephaly. Four subject groups (N 5 65; male; IQs Ն 65; age 7 to 26 years) were studied with quantitative MRI; normocephalic and macrocephalic individuals with autism without mental retardation were compared to normocephalic and benign macrocephalic typically developing individuals. Total cerebellum volumes and surface areas of four lobular midsagittal groups were measured. Independent t-tests between autism and control subjects matched for head size revealed no significant differences. Multivariate analyses of variance were also performed, using the diagnostic group as the fixed factor, cerebellar measures as the dependent variables and total intracranial volume, total brain volume, age, verbal IQ, and performance IQ as covariates. No significant differences were found; however, a trend was noted in which macrocephalic individuals with autism consistently exhibited slightly smaller cerebellar volume or surface area when compared to individuals with benign macrocephaly. In autism, with and without macrocephaly, cerebellar structures were found to be proportional to head size and did not differ from typically developing subjects. (JINS, 2008, 14, 401-413.)

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“…Similar to the L7En-2 phenotype, cerebella of ASD patients showed cell loss, abnormal neuronal differentiation, and incorrect wiring of the cerebellar cortex (Ritvo et al, 1986;Bauman and Kemper, 2005;Schaefer et al, 1996;Palmen et al, 2004;Tabuchi et al, 2007).…”

Section: Introductionmentioning

confidence: 99%

Engrailed-2 regulates genes related to vesicle formation and transport in cerebellar Purkinje cells

Holst

Maercker

Pintea

et al. 2008

Molecular and Cellular Neuroscience

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Hypoplasia of the cerebellar vermis in neurogenetic syndromes

Cited by 67 publications

References 8 publications

Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging

Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging

Quantitative magnetic resonance image analysis of the cerebellum in macrocephalic and normocephalic children and adults with autism

Engrailed-2 regulates genes related to vesicle formation and transport in cerebellar Purkinje cells

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