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Article

A case of Huntington's disease with two reduced penetrance alleles.

Clinical neurology and neurosurgery - 1 Aug 2021

Grimm Kai, Zühlke Christine, Gerloff Christian, Zittel Simone

Abstract excerpt

We present a case of Huntington's Disease (HD) with two reduced penetrance alleles and show that age of onset and motor symptoms are comparable to heterozygous patients with the same number of CAG triplet repeats. We performed a review of the literature on clinical presentation of homozygous HD cases and highlight that, so far, evidence exists that HD is a truly dominant disorder. This has important implications...

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PMID: 34237683
DOI: 10.1016/j.clineuro.2021.106773

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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