CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63

Eur J Hum Genet. 2019 Jan;27(1):161-166. doi: 10.1038/s41431-018-0231-2. Epub 2018 Aug 8.

Abstract

1. NAME OF DISEASE (SYNONYMS): Pontocerebellar hypoplasia type 9 (PCH9) and spastic paraplegia-63 (SPG63). 2. OMIM# OF THE DISEASE: 615809 and 615686. 3. NAME OF THE ANALYSED GENES OR DNA/CHROMOSOME SEGMENTS: AMPD2 at 1p13.3. 4. OMIM# OF THE GENE(S): 102771.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • AMP Deaminase / genetics
  • Cerebellar Diseases / genetics*
  • Cerebellar Diseases / pathology
  • Genetic Testing / methods*
  • Genetic Testing / standards
  • Humans
  • Mutation
  • Paraplegia / genetics*
  • Paraplegia / pathology
  • Sensitivity and Specificity

Substances

  • AMP Deaminase
  • AMPD2 protein, human

Supplementary concepts

  • Pontocerebellar Hypoplasia