The latest medical research on Huntingtons Disease

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The Phenomenology of Primary Orthostatic Tremor.

"Movement Disorders Clinical Practice

The presence and prevalence of several neurological signs in patients with primary orthostatic tremor have not been systematically studied.

To assess the prevalence of clinical features of primary orthostatic tremor.

Video-based assessment by four raters of standardized neurological examination of 11 patients with primary orthostatic tremor.

On standing, bent knees (7/11), hem sign (6/10), and a broad base of support (6/11) were the three most prevalent signs. Examination of gait revealed abnormal tandem gait (9/11) and bent knees (6/11) as the most prevalent clinical signs. In the arms, none of the patients displayed bradykinesia, ataxia, or dystonia. In the legs, ataxia was absent in all patients and bradykinesia was present in only one patient.

Abnormal tandem gait, bent knees, hem sign, and broad base on standing are the most prevalent clinical signs in primary orthostatic tremor. We did not encounter clear extrapyramidal or unequivocal cerebellar signs.

Negative DAT-SPECT in Old Onset Parkinson's Disease: An Additional Pitfall?

"Movement Disorders Clinical Practice

Scans without evidence of dopaminergic deficit (SWEDDs) refer to patients clinically diagnosed with Parkinson's disease (PD), but showing normal findings on dopamine transporter single-photon emission computed tomography (DAT-SPECT). This entity remains highly debated, but recent findings suggesting that DAT-SPECT does not reflect either nigral cell bodies or striatal fibers of dopaminergic nigrostriatal neurons could improve our understanding of SWEDDs. Notably, compensatory downregulation of DAT in the early stages of PD seems to be less efficient in older-onset than in young-onset patients.

We report eight patients with old-onset clinical parkinsonism and a positive response to levodopa in which DAT-SPECT was normal both visually and semiquantitatively. Two subjects demonstrated an abnormal scan when repeated later.

We suggest that old-onset patients may truly have dopaminergic degeneration despite normal imaging results, presumably because they are diagnosed in the early stages confirming less efficient striatal compensatory strategies in old-age onset PD.

Level I PD-MCI Using Global Cognitive Tests and the Risk for Parkinson's Disease Dementia.

"Movement Disorders Clinical Practice

The criteria for PD-MCI allow the use of global cognitive tests. Their predictive value for conversion from PD-MCI to PDD, especially compared to comprehensive neuropsychological assessment, is unknown.

The MDS PD-MCI Study Group combined four datasets containing global cognitive tests as well as a comprehensive neuropsychological assessment to define PD-MCI (n = 467). Risk for developing PDD was examined using a Cox model. Global cognitive tests were compared to neuropsychological test batteries (Level I&II) in determining risk for PDD.

PD-MCI based on a global cognitive test (MMSE or MoCA) increases the hazard for developing PDD (respectively HR = 2.57, P = 0.001; HR = 4.14, P = <0.001). The C-statistics for MMSE (0.72) and MoCA (0.70) were lower than those based on neuropsychological tests (Level I = 0.82; Level II = 0.81). Sensitivity, specificity and diagnostic accuracy balance was best in Level II.

MMSE and MoCA predict conversion to PDD. However, Level II neuropsychological assessment seems the preferred assessment for PD-MCI.

Milestones in Tremor Research: 10 Years Later.

"Movement Disorders Clinical Practice

Major progress has occurred during the last decade in the field of tremor. From the clinical standpoint, a new classification has completely revise...

Antiphospholipid-Related Chorea: Two Case Reports and Role of Metabolic Imaging.

"Movement Disorders Clinical Practice

Antiphospholipid syndrome (APS) is a complex acquired autoimmune disease with a wide clinical spectrum. Chorea is a rare neurological manifestation of APS.

We report two elderly patients with APS-related chorea in whom functional imaging (18F-FDG positron emission tomography, FDG-PET) supported the diagnosis and compare our findings with existing literature.

Among 142 clinical cases of antiphospholipid-related chorea found in literature, only 10 had undergone brain metabolic imaging. Striatal hypermetabolism was evident in all cases (6) that underwent FDG-PET cerebral imaging. Cerebral perfusion single photon emission computed tomography (SPECT) was normal in two cases, while the other two presented with basal ganglia hypoperfusion.

Brain FDG-PET usually shows striatal hypometabolism in neurodegenerative types of chorea as opposed to striatal hypermetabolism observed in most cases of chorea from reversible etiologies, such as APS-related chorea. When a patient's clinical presentation is not clearly suggestive of either a neurodegenerative or autoimmune chorea, and first-line investigations are normal, FDG-PET may help in the differential diagnosis, especially in the presence of striatal hypermetabolism. SPECT data are less numerous and show either normal scans or basal ganglia hypoperfusion.

Pathologically Verified Corticobasal Degeneration Mimicking Richardson's Syndrome Coexisting with Clinically and Radiologically Shunt-Responsive Normal Pressure Hydrocephalus.

"Movement Disorders Clinical Practice

Normal pressure hydrocephalus (NPH) manifests as gait instability, cognitive impairment, and urinary incontinence. This clinical triad of NPH sometimes occurs with ventriculomegaly in patients with neurodegenerative disease. Patients with pathologically verified neurodegenerative diseases, such as progressive supranuclear palsy (PSP), have received antemortem diagnoses of NPH.

This study presents clinical and pathological features of a patient with pathologically verified corticobasal degeneration (CBD) coexisting with clinically shunt-responsive NPH.

We performed clinical, radiological, and pathological evaluations in a patient with CBD whose antemortem diagnosis was PSP Richardson's syndrome (PSP-RS) coexisting with shunt-responsive NPH.

A 59-year-old woman developed bradykinesia and gait instability and then frequent falls, urinary incontinence, and supranuclear vertical gaze palsy followed. At 63 years of age, her gait disturbance and urinary incontinence had deteriorated rapidly, and cognitive impairment was disclosed. There were typical findings of NPH with ventriculomegaly and disproportionately enlarged subarachnoid space hydrocephalus as well as a 2-layer appearance with decreased and increased cerebral blood perfusion. Shunt placement ameliorated gait instability for more than 1 year and improved radiological indicators of NPH. However, atrophy of the midbrain progressed with time after transient increases in size. Although the antemortem diagnosis was probable PSP-RS, pathological evaluation verified CBD. There were severe discontinuities of the ependymal lining of the lateral ventricles and subependymal rarefaction and gliosis with tau-positive deposition.

Shunt surgery could ameliorate NPH symptoms in patients with 4-repeat tauopathies. Careful assessments of clinical findings are necessary to predict the benefits of shunts as a therapeutic option for patients with neurodegenerative diseases coexisting with NPH.

Nursing Approaches and Perceived Quality of Life in Advanced Stage Huntington's Disease Patients.

Journal of Huntingtons Disease

Long-term Huntington's disease (HD) care is offered in specialized inpatient nursing home units with a focus on individually perceived quality of life (QoL). This is shaped in daily care and interaction, which is often abstract and intangible. Furthermore, different perspectives are involved and may vary.

To explore and describe perceived QoL of HD patients from three perspectives: manifest HD patients, family members, and nursing staff.

36 patients, 11 family members, and 30 nurses participated in this qualitative study by means of individual interviews and systematic qualitative observations on three units.

Preservation of identity and autonomy is important for patients. Patients struggle with increasing dependence, and try to cope with the impact, uncertainty, and progressive nature of the disease. All participants emphasize the focus on "being human, not just a patient". Both patients and family members mention the difficulty of dealing with altered behavior and loss of control. Patients are reliant on a relational approach, and an attitude of unconditional acceptance, trust, and understanding support by the nurses. Nursing staff help patients to focus on preserved abilities, and to continue to engage in personalized preferred social activities. Specific qualifications of the nurses were of major influence on QoL for HD patients.

This study shows, from the patient as well as family member and nursing staff perspectives, that caring for HD patients requires specific knowledge and skills. Particular nursing approaches and attitude and qualifications of the nursing staff in residential HD care improves the perceived QoL of patients.

Searching for Answers: Information-Seeking by Young People At-Risk for Huntington's Disease.

Journal of Huntingtons Disease

Health information-seeking is a coping strategy used globally by individuals with a personal or family history of a medical condition, including Huntington's disease (HD).

We sought to ascertain information-seeking practices of young people who grew up at-risk for HD.

Participants ages 18-25 were recruited from HD support organizations. An online 96-item survey assessed information-seeking motivations and timing as well as information topics accessed, sources, and needs.

Fifty young adults (mean age 22.2 years) who grew up at-risk for HD responded. HD had been generally kept a secret (35.4%) or talked about but difficult to bring up (43.8%) in many families. Most (78.0%) became aware of HD in their family before age 15. Few (7.1%) received information resources at the time of disclosure. Most (68.1%) first sought information independently online, half within a week of disclosure. Respondents were motivated to understand the potential impact of HD on their personal lives and family members, obtain general information about the condition, and learn about treatments and research. Most sought information on clinical features and inheritance with > 80% interested in information on symptoms and personal risk and > 70% about having children.

Limited information is provided to young people when first informed about HD in their families leading to independent, mostly online information-seeking. Information is used to build knowledge about HD to facilitate coping and life planning. Healthcare providers can direct young people to reliable resources and guide parents in talking with children to ensure that information needs are met.

The Lived Experiences of Depression in Huntington's Disease: A Qualitative Study.

Journal of Huntingtons Disease

Depression is a common neuropsychiatric syndrome in Huntington's disease (HD) and has debilitating consequences, including poorer sleep, exacerbation of cognitive and functional decline, and suicidality. To date, no published studies have documented the lived experience of depression in HD, despite clinical evidence that depression may be experienced differently in HD compared to the general population.

The aim of this study was to investigate the lived experiences of depression in people with the CAG expansion for HD using qualitative methods.

We conducted semi-structured interviews with HD CAG expansion carriers who had current or previous experiences of depression, until data saturation was achieved. This resulted in interviews from 17 HD CAG expansion carriers (11 premanifest, 6 manifest) which were analyzed using thematic analysis.

The four key themes that emerged related to the temporal characteristics of depression in HD, the qualitative changes associated with depression, psychosocial stressors perceived to contribute to depression, and the perception of depression as an endogenous feature of HD.

This study provides an enriched understanding of the unique characteristics of depression in HD, and the attributions that CAG expansion carriers make for their depression symptoms. The themes identified in this study can be used to guide more targeted assessment and treatment of depression in HD.

Huntington's disease clinical trials corner: April 2022.

Journal of Huntingtons Disease

In this edition of the Huntington's Disease Clinical Trials Corner we expand on GENERATION HD1, PRECISION-HD1 and PRECISION-HD2, SELECT-HD, and VIB...

The Huntington's Disease Health Index: Initial Evaluation of a Disease-Specific Patient Reported Outcome Measure.

Journal of Huntingtons Disease

When developed properly, disease-specific patient reported outcome measures have the potential to measure relevant changes in how a patient feels and functions in the context of a therapeutic trial. The Huntington's Disease Health Index (HD-HI) is a multifaceted disease-specific patient reported outcome measure (PROM) designed specifically to satisfy previously published FDA guidance for developing PROMs for product development and labeling claims.

In preparation for clinical trials, we examine the validity, reliability, clinical relevance, and patient understanding of the Huntington's Disease Health Index (HD-HI).

We partnered with 389 people with Huntington's disease (HD) and caregivers to identify the most relevant questions for the HD-HI. We subsequently utilized two rounds of factor analysis, cognitive interviews with fifteen individuals with HD, and test-retest reliability assessments with 25 individuals with HD to refine, evaluate, and optimize the HD-HI. Lastly, we determined the capability of the HD-HI to differentiate between groups of HD participants with high versus low total functional capacity score, prodromal versus manifest HD, and normal ambulation versus mobility impairment.

HD participants identified 13 relevant and unique symptomatic domains to be included as subscales in the HD-HI. All HD-HI subscales had a high level of internal consistency and reliability and were found by participants to have acceptable content, relevance, and usability. The total HD-HI score and each subscale score statistically differentiated between groups of HD participants with high versus low disease burden.

Initial evaluation of the HD-HI supports its validity and reliability as a PROM for assessing how individuals with HD feel and function.

Standardizing the CAP Score in Huntington's Disease by Predicting Age-at-Onset.

Journal of Huntingtons Disease

Huntington's disease (HD) is an autosomal dominant, neurological disease caused by an expanded CAG repeat near the N-terminus of the huntingtin (HTT) gene. A leading theory concerning the etiology of HD is that both onset and progression are driven by cumulative exposure to the effects of mutant (or CAG expanded) huntingtin (mHTT). The CAG-Age-Product (CAP) score (i.e., the product of excess CAG length and age) is a commonly used measure of this cumulative exposure. CAP score has been widely used as a predictor of a variety of disease state variables in HD. The utility of the CAP score has been somewhat diminished, however, by a lack of agreement on its precise definition. The most commonly used forms of the CAP score are highly correlated so that, for purposes of prediction, it makes little difference which is used. However, reported values of CAP scores, based on commonly used definitions, differ substantially in magnitude when applied to the same data. This complicates the process of inter-study comparison.

In this paper, we propose a standardized definition for the CAP score which will resolve this difficulty. Our standardization is chosen so that CAP = 100 at the expected age of diagnosis.

Statistical methods include novel survival analysis methodology applied to the 13 disease landmarks taken from the Enroll-HD database (PDS 5) and comparisons with the existing, gold standard, onset model.

Useful by-products of our work include up-to-date, age-at-onset (AO) results and a refined AO model suitable for use in other contexts, a discussion of several useful properties of the CAP score that have not previously been noted in the literature and the introduction of the concept of a toxicity onset model.

We suggest that taking L = 30 and K = 6.49 provides a useful standardization of the CAP score, suitable for use in the routine modeling of clinical data in HD.