The proteins of human myelin in inborn errors of metabolism and in chromosomal anomalies

Palo, J.; Savolainen, H.

doi:10.1007/bf00691418

Cited by 6 publications

(2 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…For example pathological findings in TS point out the prevalence of cortical organization abnormalities such as cortical dysplasia, pachygyria and polymicrogyria and posterior fossa malformations that may ultimately alter axonal packing in the white matter (Della Giustina et al, 1985, Terao et al, 1996, Tombini et al, 2003). Myelin has been reported as normal in TS though (Palo and Savolainen, 1973, Sy et al, 2010). In 22q11.2DS, there have been radiological and pathological reports of cortical dysgenesis and abnormal gyrification patterns in some patients (Sztriha et al, 2004, Robin et al, 2006, Schaer et al, 2006, Kiehl et al, 2009).…”

Section: Discussionmentioning

confidence: 97%

White matter microstructural abnormalities in girls with chromosome 22q11.2 deletion syndrome, Fragile X or Turner syndrome as evidenced by diffusion tensor imaging

et al. 2013

View full text Add to dashboard Cite

Children with chromosome 22q11.2 Deletion Syndrome (22q11.2DS), Fragile X Syndrome (FXS), or Turner Syndrome (TS) are considered to belong to distinct genetic groups, as each disorder is caused by separate genetic alterations. Even so, they have similar cognitive and behavioral dysfunctions, particularly in visuospatial and numerical abilities. To assess evidence for common underlying neural microstructural alterations, we set out to determine whether these groups have partially overlapping white matter abnormalities, relative to typically developing controls. We scanned 101 female children between 7 and 14 years old: 25 with 22q11.2DS, 18 with FXS, 17 with TS, and 41 aged-matched controls using diffusion tensor imaging (DTI). Anisotropy and diffusivity measures were calculated and all brain scans were nonlinearly aligned to population and site-specific templates. We performed voxel-based statistical comparisons of the DTI-derived metrics between each disease group and the controls, while adjusting for age. Girls with 22q11.2DS showed lower fractional anisotropy (FA) than controls in the association fibers of the superior and inferior longitudinal fasciculi, the splenium of the corpus callosum, and the corticospinal tract. FA was abnormally lower in girls with FXS in the posterior limbs of the internal capsule, posterior thalami, and precentral gyrus. Girls with TS had lower FA in the inferior longitudinal fasciculus, right internal capsule and left cerebellar peduncle. Partially overlapping neurodevelopmental anomalies were detected in all three neurogenetic disorders. Altered white matter integrity in the superior and inferior longitudinal fasciculi and thalamic to frontal tracts may contribute to the behavioral characteristics of all of these disorders.

show abstract

Section: Discussionmentioning

confidence: 97%

White matter microstructural abnormalities in girls with chromosome 22q11.2 deletion syndrome, Fragile X or Turner syndrome as evidenced by diffusion tensor imaging

et al. 2013

View full text Add to dashboard Cite

show abstract

“…Moreover, decreased levels of myelin specific proteins MBP and 2 ′ 3 ′ -cyclic nucleotide-3 ′ -phosphodiesterase (CNPase) have been detected immunocytochemically in adolescents and adult DS patients in several cortical and subcortical areas (Banik et al, 1975;Palminiello et al, 2008;Vlkolinský et al, 2001). In addition, DS individuals have reduced MBP content and impaired CNPase activity (Palo and Savolainen, 1973). Studies with mice lacking CNPase or MBP (shiverer mice) show that both CNPase and MBP play important roles in axon-OLG interactions at nodes of Ranvier and in organization of the functional domain of myelinated axons (Privat et al, 1979;Readhead and Hood, 1990;Roach et al, 1985).…”

Section: Discussionmentioning

confidence: 99%

Impaired myelination of the human hippocampal formation in Down syndrome

Ábrahám

Vincze

Veszprémi

et al. 2011

Intl J of Devlp Neuroscience

View full text Add to dashboard Cite

Myelination is considered as one of the last steps of neuronal development and is essential to the physiologically matured function of afferent and efferent pathways. In the present study, myelin formation was examined in the human fetal, postnatal and adult hippocampal formation in Down syndrome and in age-matched controls with immunohistochemistry detecting a protein component of the myelin sheath, the myelin basic protein synthesized by oligodendroglial cells. Myelination is mainly a postnatal event in the hippocampal formation of both healthy controls and in patients with Down syndrome. In patients with Down syndrome the sequence of myelination of the hippocampal formation followed a similar developmental pattern to that in controls. However, myelin formation was generally delayed in Down syndrome compared to age-matched controls. In addition, in the hilus of the dentate gyrus a decreased density of myelinated axons was detected from the start of myelination until adulthood. The majority of local axons (mossy fibers) are not myelinated in the hilar region and myelinated fibers arriving in the hilus come mainly from the subcortical septal nuclei. Since intact septo-hippocampal connections are necessary for memory formation, we hypothesize that decreased myelination in the hilus may contribute to the mental retardation of Down syndrome patients.

show abstract