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

Türkmen, S., Demirhan, O., Hoffmann, K., Diers, A., Zimmer, C., Sperling, K., et al. (2006). Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p. Journal of Medical Genetics, 43(5), 461-464. doi:10.1136/jmg.2005.040030.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8437-4 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8438-2
Genre: Journal Article
Alternative Title : J Med Genet

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 Creators:
Türkmen, S.1, Author              
Demirhan, O., Author
Hoffmann, K.2, Author              
Diers, A., Author
Zimmer, C., Author
Sperling, K., Author
Mundlos, S.2, Author              
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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Free keywords: bipedality; cerebellar hypoplasia; linkage; quadrupedal locomotion
 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. 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.

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Language(s): eng - English
 Dates: 2006-05
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 313093
DOI: 10.1136/jmg.2005.040030
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Title: Journal of Medical Genetics
  Alternative Title : J Med Genet
Source Genre: Journal
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Pages: - Volume / Issue: 43 (5) Sequence Number: - Start / End Page: 461 - 464 Identifier: ISSN: 0022-2593