Psychiatric and Cognitive Difficulties as Indicators of Juvenile Huntington Disease Onset in 29 Patients

Ribaı̈, Pascale; Nguyen, Karine; Hahn-Barma, Valérie; Gourfinkel‐An, Isabelle; Vidailhet, Marie; Legout, Antoine; Dodé, Catherine; Brice, Alexis; Dürr, Alexandra

doi:10.1001/archneur.64.6.813

Cited by 119 publications

(113 citation statements)

References 19 publications

(14 reference statements)

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“…The prominence of cortical changes may be characteristic of early onset disease. Psychotic behaviors and cognitive difficulties, symptoms suggestive of cortical dysfunction, are characteristic of juvenile HD (Ribai et al, 2007). Thus, the R6/2 may model juvenile HD, overlaying disease on top of developmental maturation to produce a severe phenotype with more cortical involvement.…”

Section: Biomarkermentioning

confidence: 99%

Cortical Metabolites as Biomarkers in the R6/2 Model of Huntington's Disease

Zacharoff

Tkáč

Song³

et al. 2011

J Cereb Blood Flow Metab

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To improve the ability to move from preclinical trials in mouse models of Huntington's disease (HD) to clinical trials in humans, biomarkers are needed that can track similar aspects of disease progression across species. Brain metabolites, detectable by magnetic resonance spectroscopy (MRS), have been suggested as potential biomarkers in HD. In this study, the R6/2 transgenic mouse model of HD was used to investigate the relative sensitivity of the metabolite profiling and the brain volumetry to anticipate the disease progression. Magnetic resonance imaging (MRI) and 1 H MRS data were acquired at 9.4 T from the R6/2 mice and wild-type littermates at 4, 8, 12, and 15 weeks. Brain shrinkage was detectable in striatum, cortex, thalamus, and hypothalamus by 12 weeks. Metabolite changes in cortex paralleled and sometimes preceded those in striatum. The entire set of metabolite changes was compressed into principal components (PCs) using Partial Least Squares-Discriminant Analysis (PLS-DA) to increase the sensitivity for monitoring disease progression. In comparing the efficacy of volume and metabolite measurements, the cortical PC1 emerged as the most sensitive single biomarker, distinguishing R6/2 mice from littermates at all time points. Thus, neurochemical changes precede volume shrinkage and become potential biomarkers for HD mouse models.

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Section: Biomarkermentioning

confidence: 99%

Cortical Metabolites as Biomarkers in the R6/2 Model of Huntington's Disease

Zacharoff

Tkáč

Song³

et al. 2011

J Cereb Blood Flow Metab

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show abstract

“…Approximately 5-10 % of cases are classified as juvenile onset, with symptoms starting before the age of 20 years. The vast majority of juvenile cases are inherited paternally, and instead of chorea patients may exhibit more parkinsonian signs of bradykinesia, dystonia, tremors, and cognitive deficit [38]. When patients exhibit more hypokinetic features (bradykinesia and dystonia) than hyperkinetic features (chorea), they are said to have the Westphal variant of HD.…”

Section: Introductionmentioning

confidence: 99%

Treatment of Huntington's Disease

2014

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“…Early motor abnormalities often include rigidity, clumsiness and unsteady gait, with the choreic movements associated with adults being less common. 9,10 The rare nature of JHD means that it is less well recognized than HD and as a consequence even less is known about the condition including the psychosocial effects on both the children with JHD and their families. A detailed understanding of what it is like to care for a child with JHD and its impact on individual and family functioning is important so that suitable psychosocial interventions can be developed.…”

Section: Introductionmentioning

confidence: 99%

The personal experience of parenting a child with Juvenile Huntington’s Disease: perceptions across Europe

et al. 2013

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The study reported here presents a detailed description of what it is like to parent a child with juvenile Huntington's disease in families across four European countries. Its primary aim was to develop and extend findings from a previous UK study. The study recruited parents from four European countries: Holland, Italy, Poland and Sweden,. A secondary aim was to see the extent to which the findings from the UK study were repeated across Europe and the degree of commonality or divergence across the different countries. Fourteen parents who were the primary caregiver took part in a semistructured interview. These were analyzed using an established qualitative methodology, interpretative phenomenological analysis. Five analytic themes were derived from the analysis: the early signs of something wrong; parental understanding of juvenile Huntington's disease; living with the disease; other people's knowledge and understanding; and need for support. These are discussed in light of the considerable convergence between the experiences of families in the United Kingdom and elsewhere in Europe.

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Psychiatric and Cognitive Difficulties as Indicators of Juvenile Huntington Disease Onset in 29 Patients

Cited by 119 publications

References 19 publications

Cortical Metabolites as Biomarkers in the R6/2 Model of Huntington's Disease

Cortical Metabolites as Biomarkers in the R6/2 Model of Huntington's Disease

Treatment of Huntington's Disease

The personal experience of parenting a child with Juvenile Huntington’s Disease: perceptions across Europe

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