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Cerebellar Ataxia Special Topics

Cerebellar Ataxia Special Topics. Dalmo Mendonca Neuroscience April 1st, 2011. Overview. What is up with polyglutamine ? Cerebellar Ataxia & Digestion? Is stem cell treatment within our reach?. Polyglutamine Alone?. Mutations that cause repeat Gln in ATXN1

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Cerebellar Ataxia Special Topics

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  1. Cerebellar AtaxiaSpecial Topics DalmoMendonca Neuroscience April 1st, 2011

  2. Overview What is up with polyglutamine? Cerebellar Ataxia & Digestion? Is stem cell treatment within our reach?

  3. Polyglutamine Alone? • Mutations that cause repeat Gln in ATXN1 • Huntington’s, SCA-1, other diseases • Knockout mice with polyglutamine seq. • No ataxia! (at least not immediately) • How is ATXN1 being regulated? • Answer: Phosphorylation of Ser(776)

  4. Food & Ataxia • Gluten Sensitivity & Celiac Disease • Inappropriate autoimmune response • Usually manifested in the intestines • In some patients, gluten ingestion can impair the cerebellum and kill Purkinje cells • RefsumDisease • Inability to digest phytanic acid • Accumulation  Plaque  Neuropathy • Seen in last week’s episode of House

  5. Food & Ataxia: Refsum

  6. Stem Cell Treatment • Purkinje cell death leads to ataxia • Get new ones! • Embryonic stem cells is an option • Done in mice • Insulin, cyclopamine, & fibroblast GF1 • Secret recipe for mature Purkinje cells • Results in as little as one week • Where do we go from here?

  7. References Serine 776 of Ataxin-1 Is Critical for Polyglutamine-Induced Disease in SCA1 Transgenic Mice. 2003. Ataxia with loss of Purkinje cells in a mouse model for Refsum disease. Ontogeny-recapitulating generation and tissue integration of ES cell–derived Purkinje cells

  8. Questions?

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