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BACKGROUND AND PURPOSE: Huntington disease (HD) is an au-tosomal dominant hereditary neurodegenerative disease with multiplication of CAG triplet in the short arm of chromoso-me 4, manifested by motor symptoms, cognitive dysfunction progressing to dementia, and various types of neuropsychiat-ric disorders. The diagnosis of HD is confirmed by a gene-tic test, which may also be carried out presymptomatically. MATERIAL AND METHODS: We studied differences in psychiatric examination and psychometric measures among the 52 people at risk of HD, who were recommended to postpone or to continue in the predictive protocol. In addition to the psychiatric examination, we administered the Eysenck Personality Questionnaire (EPQ-A), the Symptom Checklist 90 (SCL-90), and quality of life questionnaire (MANSA). RESULTS: People at risk of HD with the recommended test postponement showed lower rate of neuroticism and EPQ-A lie score, higher values on the phobia and the so-called 'positive symptom distress index' in SCL-90 and lower quality of life than people at risk of HD with the recommendation to continue. CONCLUSIONS: Our results indicate that the formalized testing does not bring significant information whereas the clinical psychiatric examination remains the main decisive factor in the recommendation to perform a predictive genetic test. The motivation of applicants is considered as the most important factor in the decision-making process.

MeSH
dospělí MeSH
genetická predispozice k nemoci MeSH
Huntingtonova nemoc diagnóza epidemiologie genetika psychologie MeSH
kauzalita MeSH
kognitivní poruchy diagnóza epidemiologie genetika MeSH
komorbidita MeSH
lidé středního věku MeSH
lidé MeSH
mladý dospělý MeSH
neuropsychologické testy MeSH
prediktivní hodnota testů MeSH
psychiatrické posuzovací škály MeSH
psychomotorické poruchy diagnóza epidemiologie genetika MeSH
rizikové faktory MeSH
zdravotní stav MeSH
Check Tag
dospělí MeSH
lidé středního věku MeSH
lidé MeSH
mladý dospělý MeSH
mužské pohlaví MeSH
ženské pohlaví MeSH
Publikační typ
časopisecké články MeSH
práce podpořená grantem MeSH
Geografické názvy
Polsko MeSH

Článek

The relationship between impairment of voluntary movements and cognitive impairment in Huntington's disease

Journal of neurology. 2009 ; 256 (10) : 1629-1633.

Medvik
Zdroj

The relationship between motor symptoms and cognitive impairment in Huntington's disease (HD) is still discussed. We analysed 45 HD patients in various stages using Unified Huntington's Disease Rating Scale motor subscale (voluntary and involuntary components were evaluated separately), verbal memory and executive functions tests. Partial correlations controlling for HD duration and age were used to estimate the relationships among factor scores for motor and cognitive impairment. Voluntary components of motor performance were found to be significantly correlated with verbal short-term memory disturbances (r = -0.361, P = 0.03), with tests of executive functions more dependent on motor performance (r = 0.640, P < 0.01) and also with tests of executive functions less dependent on motor performance (r = 0.461, P < 0.01). Involuntary components did not correlate significantly with any part of cognitive performance.