title: Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats.
abstract: Extremely long (>150) CAG repeats are often used to create models of polyglutamine diseases yet are very rare in humans where they manifest as pediatric multisystem syndromes of little specificity. Here, we describe an infant with 180 CAG repeats in the spinocerebellar ataxia type 7 gene and focus on systemic ataxin-7 aggregation. This was found in many organs, including the cardiovascular system. In the brain, the hippocampus emerged as a principal site of ataxin-7 aggregation without cell loss. We note differential ubiquitination of aggregates and discuss how this may relate to selective vulnerability.
authors.affiliation: Division of Neuropathology, Institute of Neurology, Queen Square, London, United Kingdom. olaf.ansorge@clneuro.ox.ac.uk
authors.forename: Olaf
authors.initials: O
authors.lastname: Ansorge
authors.forename: Paola
authors.initials: P
authors.lastname: Giunti
authors.forename: Andrej
authors.initials: A
authors.lastname: Michalik
authors.forename: Christine
authors.initials: C
authors.lastname: Van Broeckhoven
authors.forename: Brian
authors.initials: B
authors.lastname: Harding
authors.forename: Nicholas
authors.initials: N
authors.lastname: Wood
authors.forename: Francesco
authors.initials: F
authors.lastname: Scaravilli
mesh_terms: D000067719:Ataxin-7; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000378:metabolism*; D009474:Neurons / Q000378:metabolism / Q000473:pathology; D010375:Pedigree; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D018911:Trinucleotide Repeats / Q000235:genetics*; D025801:Ubiquitin / Q000235:genetics / Q000378:metabolism*
chemical_list: C000593829:ATXN7 protein, human; D000067719:Ataxin-7; D009419:Nerve Tissue Proteins; D025801:Ubiquitin