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Open AccessCase Report

Parkinsonism with a Hint of Huntington’s from 29 CAG Repeats in HTT

by Sipilä JOT 1,2,3
1
Department of Neurology, Siun Sote North Karelia Central Hospital, 80120 Joensuu, Finland
2
Division of Clinical Neurosciences, Turku University Hospital, 20521 Turku, Finland
3
Department of Neurology, University of Turku, 20520 Turku, Finland
Brain Sci. 2019, 9(10), 245; https://doi.org/10.3390/brainsci9100245
Received: 4 September 2019 / Revised: 20 September 2019 / Accepted: 20 September 2019 / Published: 22 September 2019
(This article belongs to the Collection Collection on Clinical Neuroscience)
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. View Full-Text
Keywords: clinical neurology; differential diagnosis; genetics; neurodegenerative disease; parkinsonism; movement disorders; neurophysiology clinical neurology; differential diagnosis; genetics; neurodegenerative disease; parkinsonism; movement disorders; neurophysiology
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JOT, S. Parkinsonism with a Hint of Huntington’s from 29 CAG Repeats in HTT. Brain Sci. 2019, 9, 245.

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