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. 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.