Behavioural complaints in participants who underwent predictive testing for Huntington's disease

Witjes-Ane, M-N W

doi:10.1136/jmg.39.11.857

Cited by 23 publications

(28 citation statements)

References 47 publications

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“…Studies on HD populations have indicated that approximately 50-70 % of cases at onset present with chorea (Di Maio et al 1993;Witjes-Ane et al 2002) and chorea may develop into rigidity and dystonia later in the disease. However, 30-50 % present first, most commonly with depression followed by cognitive and behavioral changes and emotional problems such as irritability, aggression, anxiety, and obsessive behavior (Di Maio et al 1993;Witjes-Ane et al 2002). There is also considerable phenotypic variation in the pattern of symptomatology during the course of the disease.…”

Section: Symptomatologymentioning

confidence: 99%

The Neuropathology of Huntington’s Disease

Waldvogel

Kim

Tippett

et al. 2014

Current Topics in Behavioral Neurosciences

205

138

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The basal ganglia are a highly interconnected set of subcortical nuclei and major atrophy in one or more regions may have major effects on other regions of the brain. Therefore, the striatum which is preferentially degenerated and receives projections from the entire cortex also affects the regions to which it targets, especially the globus pallidus and substantia nigra pars reticulata. Additionally, the cerebral cortex is itself severely affected as are many other regions of the brain, especially in more advanced cases. The cell loss in the basal ganglia and the cerebral cortex is extensive. The most important new findings in Huntington's disease pathology is the highly variable nature of the degeneration in the brain. Most interestingly, this variable pattern of pathology appears to reflect the highly variable symptomatology of cases with Huntington's disease even among cases possessing the same number of CAG repeats.

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Section: Symptomatologymentioning

confidence: 99%

The Neuropathology of Huntington’s Disease

Waldvogel

Kim

Tippett

et al. 2014

Current Topics in Behavioral Neurosciences

205

138

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“…Up to now subtle motor, cognitive and behavioural abnormalities have been reported in preclinical carriers, but with inconsistent results [3][4][5][6][7]. Volumetric imaging studies focusing on the basal ganglia in this group showed evidence of preclinical abnormalities and reported smaller volumes of caudate nucleus and putamen many years before the clinical diagnosis could be ■ Abstract Objective To establish differences in basal ganglia and thalamic volume between preclinical carriers and non-carriers of the Huntington's disease (HD) gene and to link the volume to motor, cognitive and behavioural characteristics in carriers.…”

Section: Introductionmentioning

confidence: 98%

Basal ganglia volume and clinical correlates in ‘preclinical’ Huntington’s disease

Jurgens

Wiel

et al. 2008

J Neurol

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In line with previous research we demonstrated that basal ganglia abnormalities precede overt disease manifestation of HD. Besides we showed that smaller basal ganglia volumes are related to subtle motor abnormalities and worse psychomotor performance in gene carriers without clinical diagnosis. Motor and psychomotor measures may be suitable clinical markers in future neuroprotective trials when combined with volumetric imaging.

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“…Several qualitative and quantitative studies have been performed to evaluate the psychological impact of predictive genetic testing in late-onset monogenic disorders, particularly for HD [15, 16, 17]. Given the high prevalence of MJD in the Azores, a strong investment has been made for the establishment of a Program of GC and PT for this disease, offered to individuals at risk since 1998.…”

Section: Introductionmentioning

confidence: 99%

Short-Term Psychological Impact of Predictive Testing for Machado-Joseph Disease: Depression and Anxiety Levels in Individuals at Risk from the Azores (Portugal)

González¹,

Lima

Kay

et al. 2004

Public Health Genomics

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Objective: The short-term impact of the pre-symptomatic genetic test (PT) for Machado-Joseph disease (MJD) in the Azores (Portuguese Islands) was assessed in 46 individuals at risk who completed the PT Program. Methods: Scores for depression and anxiety were used as indicators of the subjects’ emotional status immediately before the PT and 1 year after disclosure of the results. Results: Global levels of participation in the Azorean PT Program for MJD were high (20.7%), particularly in Flores Island (35.8%). For the total sample, mean scores of depression and anxiety before and after the PT presented without clinical significance. No differences were found for depression and anxiety scores before and after the PT. Furthermore, when grouped by test results (carriers/non-carriers), there were no differences between pre- and post-test levels. Conclusions: Results indicate that the test result did not cause a decrease in the psychological well-being of the individuals tested. The high number of participants performing the PT in the small and isolated community of Flores Island, where MJD represents a source of stigma, was interpreted as an indication that in this particular population the PT offers the individuals at risk the possibility of liberating from a stigma, and, hence, from exclusion.

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Behavioural complaints in participants who underwent predictive testing for Huntington's disease

Cited by 23 publications

References 47 publications

The Neuropathology of Huntington’s Disease

The Neuropathology of Huntington’s Disease

Basal ganglia volume and clinical correlates in ‘preclinical’ Huntington’s disease

Short-Term Psychological Impact of Predictive Testing for Machado-Joseph Disease: Depression and Anxiety Levels in Individuals at Risk from the Azores (Portugal)

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