Ontology highlight
ABSTRACT:
SUBMITTER: Scola E
PROVIDER: S-EPMC6942969 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Scola Elisa E Ganau Mario M Robinson Robert R Cleary Maureen M De Cocker Laurens J L LJL Mankad Kshitij K Triulzi Fabio F D'Arco Felice F
Quantitative imaging in medicine and surgery 20191201 12
Pontocerebellar hypoplasia type 9 (PCH9) is a rare autosomal recessive neurodegenerative disorder with prenatal onset caused by mutations in adenosine monophosphate deaminase 2 (<i>AMPD2</i>). PCH9 patients demonstrate severe neurodevelopmental delay with early onset and typical magnetic resonance imaging (MRI) findings consisting in: pontine hypoplasia or atrophy with dragonfly cerebellar atrophy appearance on coronal images, reduction in size of the pons and middle cerebellar peduncles, abnorm ...[more]