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

Kai Grimm; Christine Zühlke; Christian Gerloff; Simone Zittel

doi:10.1016/j.clineuro.2021.106773

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

Clin Neurol Neurosurg. 2021 Aug:207:106773. doi: 10.1016/j.clineuro.2021.106773. Epub 2021 Jun 25.

Authors

Kai Grimm¹, Christine Zühlke², Christian Gerloff³, Simone Zittel³

Affiliations

¹ Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistr. 52, Hamburg 20246, Germany. Electronic address: k.grimm@uke.de.
² Institute of Human Genetics, University of Lübeck, Lübeck, Germany.
³ Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistr. 52, Hamburg 20246, Germany.

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

Abstract

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 for pathophysiology concepts of the disease.

Keywords: Homozygote; Huntington’s disease; Reduced penetrance.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Alleles
Humans
Huntington Disease / diagnosis*
Huntington Disease / genetics*
Male
Middle Aged
Penetrance*
Trinucleotide Repeats