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Ataxin‐7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats
Author(s) -
Ansorge Olaf,
Giunti Paola,
Michalik Andrej,
Van Broeckhoven Christine,
Harding Brian,
Wood Nicholas,
Scaravilli Francesco
Publication year - 2004
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20230
Subject(s) - spinocerebellar ataxia , neuroscience , biology , ataxia , ubiquitin , protein aggregation , frontotemporal dementia , genetics , gene , medicine , dementia , disease , pathology
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. Ann Neurol 2004;56:448–452