A case of Huntington's disease with two reduced penetrance alleles
CLINICAL NEUROLOGY AND NEUROSURGERY(2021)
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.
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Key words
Homozygote,Reduced penetrance,Huntington's disease
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