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



: Sipilä J.O.T

Publisher: MDPI

: 2019

: Brain Sciences

: BRAIN SCIENCES

: BRAIN SCI

: ARTN 245

: 9

: 10

: 5

DOI: https://doi.org/10.3390/brainsci9100245

: https://research.utu.fi/converis/portal/detail/Publication/43788609


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.

Last updated on 2024-26-11 at 17:46