Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
, 95 (3), 270-4

Somatic Expansion of the (CAG)n Repeat in Huntington Disease Brains


Somatic Expansion of the (CAG)n Repeat in Huntington Disease Brains

K E De Rooij et al. Hum Genet.


The mutation causing Huntington disease (HD) has been identified as an expansion of a polymorphic (CAG)n repeat in the 5' part of the huntingtin gene. The specific neuropathology of HD, viz. selective neuronal loss in the caudate nucleus and putamen, cannot be explained by the widespread expression of the gene. Since somatic expansion is observed in affected tissue in myotonic dystrophy, we have studied the length of the (CAG)n repeat in various regions of the brain. Although we have not found clear differences when comparing severely and mildly affected regions, we have observed a minor increase in repeat length upon comparison of affected brain samples with cerebellum or peripheral blood. Hence, although further somatic amplification seems to occur in affected areas of the brain, the differences between affected and unaffected regions are too small to make this mechanism an obvious candidate for the cause of differential neuronal degeneration in HD.

Similar articles

See all similar articles

Cited by 12 PubMed Central articles

See all "Cited by" articles


    1. J Med Genet. 1993 Dec;30(12):996-1002 - PubMed
    1. Nat Genet. 1994 Jan;6(1):14-8 - PubMed
    1. Cell. 1992 Feb 21;68(4):799-808 - PubMed
    1. Nat Genet. 1993 Jul;4(3):233-8 - PubMed
    1. Nat Genet. 1993 Nov;5(3):259-65 - PubMed

Publication types

LinkOut - more resources