B1 Vertaisarvioimaton kirjoitus tieteellisessä lehdessä
Parkinsonism with a Hint of Huntington's from 29 CAG Repeats in HTT
Tekijät: Sipilä J.O.T
Kustantaja: MDPI
Julkaisuvuosi: 2019
Journal: Brain Sciences
Tietokannassa oleva lehden nimi: BRAIN SCIENCES
Lehden akronyymi: BRAIN SCI
Artikkelin numero: ARTN 245
Vuosikerta: 9
Numero: 10
Sivujen määrä: 5
DOI: https://doi.org/10.3390/brainsci9100245
Rinnakkaistallenteen osoite: https://research.utu.fi/converis/portal/detail/Publication/43788609
Tiivistelmä
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.
Ladattava julkaisu This is an electronic reprint of the original article. |  |
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