A1 Vertaisarvioitu alkuperäisartikkeli tieteellisessä lehdessä
Comparison of mid-age-onset and late-onset Huntington's disease in Finnish patients
Tekijät: Jussi O. T. Sipilä, Tommi Kauko, Markku Päivärinta, Kari Majamaa
Kustantaja: SPRINGER HEIDELBERG
Julkaisuvuosi: 2017
Journal: Journal of Neurology
Tietokannassa oleva lehden nimi: JOURNAL OF NEUROLOGY
Lehden akronyymi: J NEUROL
Vuosikerta: 264
Numero: 10
Aloitussivu: 2095
Lopetussivu: 2100
Sivujen määrä: 6
ISSN: 0340-5354
eISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-017-8600-2
Verkko-osoite: https://link.springer.com/article/10.1007/s00415-017-8600-2
Rinnakkaistallenteen osoite: https://research.utu.fi/converis/portal/detail/Publication/27786782
The phenotype of juvenile Huntington's disease (HD) differs clearly from that of adult-onset HD, but information about differences between mid-age-onset HD and late-onset HD (LOHD) is scarce. A national cohort of 206 patients with adult-onset HD was identified using national registries and patient records. LOHD was defined as age >= 60 years at HD diagnosis. Genetic disease burden was assessed using CAG age product (CAP) score. LOHD comprised 25% of the adult-onset HD cohort giving a point prevalence of 2.38/100,000 in the Finnish population at least 60 years of age. The proportion of LOHD out of new HD diagnoses increased from 21% in 1991-2000 to 33% in 2001-2010. At the time of diagnosis, patients with LOHD had 10.4 units (95% CI 4.8-15.9; p = 0.0003) higher CAP scores, more severe motor impairment and slightly more severe functional impairment than that in patients with mid-age-onset HD. There was no difference in the rate of disease progression or survival between LOHD and mid-age-onset patients. The lifespans of deceased patients were shorter in mid-age-onset HD (p < 0.001) and LOHD (p = 0.002) than their life expectancies. Causes of death differed between the two patient groups (p = 0.025). LOHD comprises a quarter of Finnish HD patients and the proportion appears to be increasing. Our results did not reveal differences in the phenotype between mid-age-onset HD and LOHD, but prospective studies are needed.
Ladattava julkaisu This is an electronic reprint of the original article. |  |
