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., ...Daha Fazla

JOURNAL OF MEDICAL GENETICS, cilt.43, sa.5, ss.461-464, 2006 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 43 Sayı: 5
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1136/jmg.2005.040030
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.461-464
  • Çukurova Üniversitesi Adresli: Evet

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.