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Acta Neuropathologica

Erschienen in:

01.03.2014 | Editorial

C9ORF72: grabbing a tiger by the tail

verfasst von: David Mann

Erschienen in: Acta Neuropathologica | Ausgabe 3/2014

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Excerpt

Over the past three decades, the combination of genetic analysis based on well-defined families with inherited disease, and pathobiochemical studies of aggregated brain proteins, has paved the way towards our present understanding of the causes and effects of many neurodegenerative diseases. One of the first disorders to be investigated in this way was Huntington’s disease (HD), where genetic linkage studies first established the HD locus on chromosome 4 in 1983 [27]. Nonetheless, it took a further 10 years to ascertain that association to this locus was due to a mutation in the huntingtin gene (HTT), this being a trinucleotide (CAG) repeat in the intron to exon 1 of the gene [60]. Normal individuals carry up to 32 repeats, whereas individuals with HD bear in excess of 36 repeats. Success in this area quickly led to the identification in 1994 of similar disorders, such as Dentato Rubro Pallido Luysian Atrophy (DRPLA) [36] and spinocerebellar atrophy type 1 (SCA-1) [5], also with CAG repeat expansions. …

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Titel: C9ORF72: grabbing a tiger by the tail
verfasst von: David Mann
Publikationsdatum: 01.03.2014
Verlag: Springer Berlin Heidelberg
Erschienen in: Acta Neuropathologica / Ausgabe 3/2014
Print ISSN: 0001-6322
Elektronische ISSN: 1432-0533
DOI: https://doi.org/10.1007/s00401-014-1252-8

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