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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.

Original publication

DOI

10.1002/ana.20230

Type

Journal article

Journal

Ann Neurol

Publication Date

09/2004

Volume

56

Pages

448 - 452

Keywords

Ataxin-7, Child, Preschool, Female, Humans, Male, Nerve Tissue Proteins, Neurons, Pedigree, Spinocerebellar Ataxias, Trinucleotide Repeats, Ubiquitin