Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p
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چکیده
منابع مشابه
Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p.
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...
متن کاملHomozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.
The biological basis for the development of the cerebro-cerebellar structures required for posture and gait in humans is poorly understood. We investigated a large consanguineous family from Turkey exhibiting an extremely rare phenotype associated with quadrupedal locomotion, mental retardation, and cerebro-cerebellar hypoplasia, linked to a 7.1-Mb region of homozygosity on chromosome 17p13.1-1...
متن کاملMutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans.
Quadrupedal gait in humans, also known as Unertan syndrome, is a rare phenotype associated with dysarthric speech, mental retardation, and varying degrees of cerebrocerebellar hypoplasia. Four large consanguineous kindreds from Turkey manifest this phenotype. In two families (A and D), shared homozygosity among affected relatives mapped the trait to a 1.3-Mb region of chromosome 9p24. This geno...
متن کاملReply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion.
Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion Mutations in the very low-density lipoprotein receptor VLDLR are responsible for cerebellar hypoplasia with qua-drupedal gait (1). The most likely mechanism leading to this phenotype is that VLDLR deficiency in the brain at a key stage of development precludes the normal formatio...
متن کاملDevelopment of Bipedal and Quadrupedal Locomotion in Humans from a Dynamical Systems Perspective
Locomotion is the movement of an organism from one place to another, often by the action of appendages such as flagella, limbs, or wings. In some animals, such as fish, locomotion results from a wavelike series of muscle contractions (The American Heritage® Science Dictionary, 2005). Walking is the act of traveling by foot; gait is the manner of walking; running is the act of traveling on foot ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2005
ISSN: 1468-6244
DOI: 10.1136/jmg.2005.040030