Article
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.
Journal of human genetics - 1 Apr 2021
Sakamoto Masamune, Iwama Kazuhiro, Sekiguchi Futoshi, Mashimo Hideaki, Kumada Satoko, Ishigaki Keiko, Okamoto Nobuhiko, Behnam Mahdiyeh, Ghadami Mohsen, Koshimizu Eriko, Miyatake Satoko, Mitsuhashi Satomi, Mizuguchi Takeshi, Takata Atsushi, Saitsu Hirotomo, Miyake Noriko, Matsumoto Naomichi
Abstract excerpt
Pontocerebellar hypoplasia (PCH) is currently classified into 13 subgroups and many gene variants associated with PCH have been identified by next generation sequencing. PCH type 1 is a rare heterogeneous neurodegenerative disorder. The clinical presentation includes early-onset severe developmental delay, progressive motor neuronopathy, and cerebellar and pontine atrophy. Recently two variants in the EXOSC9 gene...
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