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Cerebellar ataxia cases - samples

ABSTRACT: Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) samples

PROVIDER: EGAD00010000130 | EGA |

REPOSITORIES: EGA

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Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.

Gulsuner Suleyman S Tekinay Ayse Begum AB Doerschner Katja K Boyaci Huseyin H Bilguvar Kaya K Unal Hilal H Ors Aslihan A Onat O Emre OE Atalar Ergin E Basak A Nazli AN Topaloglu Haluk H Kansu Tulay T Tan Meliha M Tan Uner U Gunel Murat M Ozcelik Tayfun T

Genome research 20110901 12

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 17p13.1-13.3. Diffusion weighted imaging and fiber tractography of the patients' brains revealed morphological a ...[more]

PMID: 21885617

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