Title

Documenting the Neuropathology of a Genetic Disorder: Fragile X-Associated Tremor/Ataxia Syndrome

Presenter

Jack Henry Kotnik

Abstract

Fragile X-associated Tremor/Ataxia Syndrome (fxtas) is a late-onset neurodegenerative disorder associated with loss of motor coordination, cognitive decline, susceptibility to depression, and earlier age of death (as well as a myriad of other symptoms more loosely associated with the disorder). It is linked to a trinucleotide CGG repeat expansion on the long arm of the X chromosome, on the fragile X gene (Fmr1). Although we know that a repeat expansion between 55 and 200 trinucleotide causes fxtas, we do not know how the resulting pathology causes the symptoms. This study worked to document the neuropathology of a new transgenic mouse model of the disorder.

Faculty Sponsor

Leena Knight

Sponsor Department/Programs

Biology

Tracks

Poster Session

Location

Cordiner Hall

Presentation Type

Poster

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Apr 19th, 1:00 PM Apr 19th, 2:00 PM

Documenting the Neuropathology of a Genetic Disorder: Fragile X-Associated Tremor/Ataxia Syndrome

Cordiner Hall

Fragile X-associated Tremor/Ataxia Syndrome (fxtas) is a late-onset neurodegenerative disorder associated with loss of motor coordination, cognitive decline, susceptibility to depression, and earlier age of death (as well as a myriad of other symptoms more loosely associated with the disorder). It is linked to a trinucleotide CGG repeat expansion on the long arm of the X chromosome, on the fragile X gene (Fmr1). Although we know that a repeat expansion between 55 and 200 trinucleotide causes fxtas, we do not know how the resulting pathology causes the symptoms. This study worked to document the neuropathology of a new transgenic mouse model of the disorder.