Spinal muscular atrophy with pontocerebellar hypoplasia

Spinal muscular atrophy with pontocerebellar hypoplasia

The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-β precursor.
Key words: APP; neuronal migration; SMA-PCH (spinal muscular atrophy pontocerebellar hypoplasia); Introduction. The spinal muscular.
Spinal muscular atrophy with pontocerebellar hypoplasia (SMA-PCH) is an infantile SMA variant with additional manifestations, particularly. Spinal muscular atrophy with pontocerebellar hypoplasia Collagen encircling atrophic fibers is observed. All PCH syndromes include a small cerebellum and brainstem, and progressive microcephaly is common. A muscle biopsy performed at that time revealed neurogenic atrophy typical of SMA. Brain CT was unremarkable except for microcephaly, and there was no evidence of craniosynostosis on skull X-rays. Pharmacologically Counteracting a Phenotypic Difference in Cerebellar GABA A Receptor Response to Alcohol Prevents Excessive Alcohol Consumption in a High Alcohol-Consuming Rodent Genotype. Cells were counted in separate channels using Imaris.

Spinal muscular atrophy with pontocerebellar hypoplasia -

Notably, both girls had normal birth weights and did not have congenital arthrogryposis. The patients presented at birth or in the first months of life with severe hypotonia and delayed psychomotor development. Maximum likelihood haplotyping for general pedigrees. By using this site, you agree to the Terms of Use and Privacy Policy. You are here: NCBI. Skip to main content.