Home News About Us Contact Contributors Disclaimer Privacy Policy Help FAQ

Quick Search
My eDoc
Session History
Support Wiki
Direct access to
document ID:

          Institute: MPI für molekulare Genetik     Collection: Research Group Development and Disease     Display Documents

ID: 313093.0, MPI für molekulare Genetik / Research Group Development and Disease
Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p
Authors:Türkmen, S.; Demirhan, O.; Hoffmann, K.; Diers, A.; Zimmer, C.; Sperling, K.; Mundlos, S.
Date of Publication (YYYY-MM-DD):2006-05
Title of Journal:Journal of Medical Genetics
Journal Abbrev.:J Med Genet
Issue / Number:5
Start Page:461
End Page:464
Copyright:© 2006 by BMJ Publishing Group Ltd
Review Status:not specified
Audience:Experts Only
Abstract / Description: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.

Methods and Results: Here we present a family with seven affected members, five of whom never learned to walk on two legs but have fully adapted to quadrupedal palmigrade locomotion. These subjects show signs of cerebellar ataxia and are mentally retarded. MRI analysis demonstrated hypoplasia of the cerebellum and the cerebellar vermis as well as a small nucleus dentatus and a thin corpus callosum but no other malformations. We show, by a genome-wide linkage scan, that quadrupedal locomotion is a recessive trait linked to chromosome 17p.

Conclusions: Our findings have implications for understanding the neural mechanism mediating bipedalism, and, perhaps, the evolution of this unique hominid trait.
Free Keywords:bipedality; cerebellar hypoplasia; linkage; quadrupedal locomotion
Comment of the Author/Creator:Correspondence to:
Stefan Mundlos
Institut für Medizinische Genetik, Charité, Augustenburger Platz 1, 13353 Berlin, Germany;
e-mail: stefan.mundlos@charite.de
External Publication Status:published
Document Type:Article
Communicated by:Stefan Mundlos
Affiliations:MPI für molekulare Genetik
External Affiliations:Institut für Medizinische Genetik, Charité, Universitätsmedizin Berlin, Berlin, Germany;
Department of Medical Biology and Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey;
Abteilung für Neuropädiatrie, Charité, Universitätsmedizin Berlin, Berlin, Germany;
Abteilung für Neuroradiologie der TU München, Munich, Germany;
Institut für Humangenetik, Charité, Universitätsmedizin Berlin, Berlin, Germany
Full Text:
You have privileges to view the following file(s):
Tuerkmen.pdf  [251,00 Kb]   
The scope and number of records on eDoc is subject to the collection policies defined by each institute - see "info" button in the collection browse view.