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., et al.

JOURNAL OF MEDICAL GENETICS, cilt.43, ss.461-464, 2006 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 43 Konu: 5
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1136/jmg.2005.040030
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS
  • Sayfa Sayısı: ss.461-464

Özet

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.