Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p


TURKMEN S., Demirhan O. , HOFFMANN K., DIERS A., ZIMMER C., SPERLING K., ...More

JOURNAL OF MEDICAL GENETICS, vol.43, no.5, pp.461-464, 2006 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 43 Issue: 5
  • Publication Date: 2006
  • Doi Number: 10.1136/jmg.2005.040030
  • Title of Journal : JOURNAL OF MEDICAL GENETICS
  • Page Numbers: pp.461-464

Abstract

Background: Congenital hereditary non-progressive hypoplasia of the cerebellum is a rare condition, frequently associated with other neuropathology such as lissencephaly. Clinically, the condition is associated with variable degrees of mental retardation, microcephaly, seizures, and movement disorders due to ataxia. In severe cases, patients are unable to ambulate independently, but nevertheless do use bipedal locomotion.