Cargando…
Late-onset Huntington’s disease with 40–42 CAG expansion
INTRODUCTION: Huntington’s disease (HD) is a rare autosomal dominant neurodegenerative disorder caused by a CAG expansion greater than 35 in the IT-15 gene. There is an inverse correlation between the number of pathological CAG and the age of onset. However, CAG repeats between 40 and 42 showed a wi...
Autores principales: | Capiluppi, Elisa, Romano, Luca, Rebora, Paola, Nanetti, Lorenzo, Castaldo, Anna, Gellera, Cinzia, Mariotti, Caterina, Macerollo, Antonella, Cislaghi, M. Giuliana |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer International Publishing
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7160095/ https://www.ncbi.nlm.nih.gov/pubmed/31820322 http://dx.doi.org/10.1007/s10072-019-04177-8 |
Ejemplares similares
-
What is the Pathogenic CAG Expansion Length in Huntington’s Disease?
por: Donaldson, Jasmine, et al.
Publicado: (2021) -
PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature
por: Nanetti, Lorenzo, et al.
Publicado: (2015) -
Case report and literature review of Huntington disease with intermediate CAG expansion
por: Jevtic, Stefan D, et al.
Publicado: (2020) -
Huntington’s disease mouse models: unraveling the pathology caused by CAG repeat expansion
por: Kaye, Julia, et al.
Publicado: (2021) -
Continuous and Periodic Expansion of CAG Repeats in Huntington's Disease R6/1 Mice
por: Møllersen, Linda, et al.
Publicado: (2010)