Pontocerebellar disorders



  • © 2018 Elsevier Inc. All rights reserved. Autosomal recessive pontocerebellar hypoplasia comprises a group of devastating neurodegenerative disorders that lead to severe motor and cognitive impairment. Life expectancy varies based on subtype and is unpredictable; few patients live into adulthood. Prenatal diagnosis is challenging, as midtrimester imaging is usually normal. Families with a known mutation should be offered genetic counseling to discuss deoxyribonucleic acid banking of affected individuals, preimplantation, and prenatal testing options.
  • Authors

    Digital Object Identifier (doi)

    International Standard Book Number (isbn) 13

  • 9780323445481
  • Start Page

  • 581
  • End Page

  • 584.e1