B1 Non-refereed article in a scientific journal
Parkinsonism with a Hint of Huntington's from 29 CAG Repeats in HTT
Authors: Sipilä J.O.T
Publisher: MDPI
Publication year: 2019
Journal: Brain Sciences
Journal name in source: BRAIN SCIENCES
Journal acronym: BRAIN SCI
Article number: ARTN 245
Volume: 9
Issue: 10
Number of pages: 5
DOI: https://doi.org/10.3390/brainsci9100245
Self-archived copy’s web address: https://research.utu.fi/converis/portal/detail/Publication/43788609
Abstract
Huntington's disease is caused by at least 36 cytosine-adenine-guanine (CAG) repeats in an HTT gene allele, but repeat tracts in the intermediate range (27-35 repeats) also display a subtle phenotype. This patient had a slightly elongated CAG repeat tract (29 repeats), a prominent family history of Parkinson's disease (PD), and a clinical phenotype mostly consistent with PD, but early dystonia and poor levodopa response. Neurophysiological test results were more consistent with Huntington's disease (HD) than PD. It is suggested that the intermediate allele modulated the clinical phenotype of PD in this patient.
Huntington's disease is caused by at least 36 cytosine-adenine-guanine (CAG) repeats in an HTT gene allele, but repeat tracts in the intermediate range (27-35 repeats) also display a subtle phenotype. This patient had a slightly elongated CAG repeat tract (29 repeats), a prominent family history of Parkinson's disease (PD), and a clinical phenotype mostly consistent with PD, but early dystonia and poor levodopa response. Neurophysiological test results were more consistent with Huntington's disease (HD) than PD. It is suggested that the intermediate allele modulated the clinical phenotype of PD in this patient.
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