Progressive cerebral atrophies in three children with COL4A1 mutations

The collagen type IV alpha 1 chain (COL4A1) gene on 13q34 encodes one chain of collagen. COL4A1 mutations have been identified as the cause of a group of multisystemic conditions in humans, including the brain, eyes, kidneys, muscles, and other organs at any age. Brain imaging shows a wide spectrum of abnormalities, including porencephaly, schizencephaly, polymicrogyria focal cortical dysplasia, periventricular leukoencephalopathy, ventricular dysmorphisms, and multiple brain calcifications. However, there are no reports in the literature showing progressive radiological findings in consecutive follow-up scans.

Source: Brain and Development - July 16, 2021 Category: Neurology Authors: Yuko Nakamura, Tohru Okanishi, Hiroyuki Yamada, Tetsuya Okazaki, Chika Hosoda, Toshiyuki Itai, Satoko Miyatake, Hirotomo Saitsu, Naomichi Matsumoto, Yoshihiro Maegaki Tags: Case Report Source Type: research