Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord ... Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings (Barth, 1993). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596).
In a Pakistani individual with PCH2 in whom no mutation in TSEN54 was found, Budde et al. (2008) found homozygosity for a missense mutation in the TSEN2 gene (608753.0001). This mutation was not found in 188 Pakistani, 92 ... In a Pakistani individual with PCH2 in whom no mutation in TSEN54 was found, Budde et al. (2008) found homozygosity for a missense mutation in the TSEN2 gene (608753.0001). This mutation was not found in 188 Pakistani, 92 Dutch, 54 Chinese, or 28 Palestinian controls.