Huntington disease in a nonagenarian mistakenly diagnosed as normal pressure hydrocephalus

Dennhardt, J.; LeDoux, M.S.

doi:10.1016/j.jocn.2009.11.011

Cited by 10 publications

(6 citation statements)

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“…Alleles with forty or more repeats are fully penetrant and inevitably associated with neuronal degeneration and the progressive motor, cognitive, and behavioral features of HD [6]. Although longer CAG repeat expansions are associated with earlier disease manifestation [7]–[9], age of onset varies considerably for any given CAG repeat expansion [10].…”

Section: Introductionmentioning

confidence: 99%

Characterization of a Large Group of Individuals with Huntington Disease and Their Relatives Enrolled in the COHORT Study

Dorsey

2012

PLoS ONE

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BackgroundCareful characterization of the phenotype and genotype of Huntington disease (HD) can foster better understanding of the condition.MethodsWe conducted a cohort study in the United States, Canada, and Australia of members of families affected by HD. We collected demographic and clinical data, conducted the Unified Huntington's Disease Rating Scale and Mini-Mental State Examination, and determined Huntingtin trinucleotide CAG repeat length. We report primarily on cross-sectional baseline data from this recently completed prospective, longitudinal, observational study.ResultsAs of December 31, 2009, 2,318 individuals enrolled; of these, 1,985 (85.6%) were classified into six analysis groups. Three groups had expanded CAG alleles (36 repeats or more): individuals with clinically diagnosed HD [n = 930], and clinically unaffected first-degree relatives who had previously pursued [n = 248] or not pursued [n = 112] predictive DNA testing. Three groups lacked expanded alleles: first-degree relatives who had previously pursued [n = 41] or not pursued [n = 224] genetic testing, and spouses and caregivers [n = 430]. Baseline mean performance differed across groups in all motor, behavioral, cognitive, and functional measures (p<0.001). Clinically unaffected individuals with expanded alleles weighed less (76.0 vs. 79.6 kg; p = 0.01) and had lower cognitive scores (28.5 vs. 29.1 on the Mini Mental State Examination; p = 0.008) than individuals without expanded alleles. The frequency of “high normal” repeat lengths (27 to 35) was 2.5% and repeat lengths associated with reduced penetrance (36 to 39) was 2.7%.ConclusionBaseline analysis of COHORT study participants revealed differences that emerge prior to clinical diagnosis. Longitudinal investigation of this cohort will further characterize the natural history of HD and genetic and biological modifiers.Trial RegistrationClinicaltrials.gov NCT00313495

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Section: Introductionmentioning

confidence: 99%

Characterization of a Large Group of Individuals with Huntington Disease and Their Relatives Enrolled in the COHORT Study

Dorsey

2012

PLoS ONE

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“…Alleles with 40 repeats are fully penetrant and inevitably associated with progressive motor, cognitive, and behavioral features of HD (Hendricks et al, 2009). It has been observed that longer CAG repeat expansions are associated with earlier disease manifestation (Duyao et al, 1993; Stine et al, 1993; Langbehn et al, 2010), and that age of onset varies considerably for any given CAG repeat expansion (Dennhardt and LeDoux, 2010). Nevertheless, there is growing evidence that cognitive changes occur in individuals who carry an expanded allele prior to the clinical (motor) diagnosis of HD (Dorsey, 2012).…”

Section: Discussionmentioning

confidence: 99%

Motorâ€“Language Coupling in Huntingtonâ€™s Disease Families

Kargieman

Herrera

Báez

et al. 2014

Front. Aging Neurosci.

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Traditionally, Huntington’s disease (HD) has been known as a movement disorder, characterized by motor, psychiatric, and cognitive impairments. Recent studies have shown that motor and action–language processes are neurally associated. The cognitive mechanisms underlying this interaction have been investigated through the action compatibility effect (ACE) paradigm, which induces a contextual coupling of ongoing motor actions and verbal processing. The present study is the first to use the ACE paradigm to evaluate action–word processing in HD patients (HDP) and their families. Specifically, we tested three groups: HDP, healthy first-degree relatives (HDR), and non-relative healthy controls. The results showed that ACE was abolished in HDP as well as HDR, but not in controls. Furthermore, we found that the processing deficits were primarily linguistic, given that they did not correlate executive function measurements. Our overall results underscore the role of cortico-basal ganglia circuits in action–word processing and indicate that the ACE task is a sensitive and robust early biomarker of HD and familial vulnerability.

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“…The average age of disease onset is between 35 and 44 years, 4 but the clinical diagnosis has been made in infancy and in individuals as old as 90 years. 41 The median survival in HD is reported to be about 15 years from onset, but these data are likely out of date. 1 However, there is some variation in disease duration with some families exhibiting a slower rate of disease progression and longer survival.…”

Section: Clinical Coursementioning

confidence: 99%

The Clinical and Genetic Features of Huntington Disease

Sturrock

Leavitt

2010

J Geriatr Psychiatry Neurol

123

111

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Huntington disease (HD) is a dominantly inherited neurodegenerative disorder that usually presents in adulthood with characteristic motor and cognitive features and with variable and diverse psychiatric disturbances. Following the discovery of the causative defect in the HTT gene in 1993, great advances in understanding the pathogenesis of HD have been made, yet no effective disease-modifying therapy has been identified. In this new era of HD research, we have seen the emergence of a number of large clinical trials, the systematic search for novel biomarkers and the recent initiation of the first pre-manifest HD clinical studies. In this review, we seek to provide an overview of the clinical and genetic features of HD together with a summary of clinical research at this time.

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Huntington disease in a nonagenarian mistakenly diagnosed as normal pressure hydrocephalus

Cited by 10 publications

References 9 publications

Characterization of a Large Group of Individuals with Huntington Disease and Their Relatives Enrolled in the COHORT Study

Characterization of a Large Group of Individuals with Huntington Disease and Their Relatives Enrolled in the COHORT Study

Motorâ€“Language Coupling in Huntingtonâ€™s Disease Families

The Clinical and Genetic Features of Huntington Disease

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