Finger tapping as an objective motor phenotype marker in pre-manifest and symptomatic Huntington's disease – cross-sectional results from the TRACK-HD Study

2009 ◽  
Vol 36 (S 02) ◽  
Author(s):  
N Bechtel ◽  
C Jauffret ◽  
M Say ◽  
A Sturrock ◽  
S van den Bogaard ◽  
...  
2021 ◽  
pp. 1-10
Author(s):  
Christina Lang ◽  
Christopher Gries ◽  
Katrin S. Lindenberg ◽  
Jan Lewerenz ◽  
Stefanie Uhl ◽  
...  

Background: Besides cognitive and psychiatric abnormalities, motor symptoms are the most prominent in Huntington’s disease. The manifest disease is preceded by a prodromal phase with subtle changes such as fine motor disturbances or concentration problems. Objective: Movement disorders show a high variation in their clinical manifestation depending on condition and external influences. Therefore, devices for continuous measurements, which patients use in their daily life and which can monitor motor abnormalities, in addition to the medical examination, might be useful. The aim of current scientific efforts is to find markers that reflect the prodromal phase in gene carriers. This is important for future interventional studies, as future therapies should be applied at the stage of neuronal dysfunction, i.e., before the clinical manifestation. Methods: We performed a software-supported, continuous monitoring of keyboard typing on the participants’ own computer to evaluate this method as a tool to assess the motor phenotype in HD. We included 40 participants and obtained sufficient data from 25 participants, 12 of whom were manifest HD patients, 7 HD gene expansion carriers (HDGEC) and 6 healthy controls. Results: In a cross-sectional analysis we found statistically significant higher typing inconsistency in HD patients compared to controls. Typing inconsistency compared between HDGEC and healthy controls showed a trend to higher inconsistency levels in HDGEC. We found correlations between typing cadence and clinical scores: the UHDRS finger tapping item, the composite UHDRS and the CAP score. Conclusion: The typing cadence inconsistency is an appropriate marker to evaluate fine motor skills of HD patients and HDGEC and is correlated to established clinical measurements.


2009 ◽  
Vol 36 (S 02) ◽  
Author(s):  
H Beckmann ◽  
S Rumpf ◽  
N Bechtel ◽  
HW Lange ◽  
C Saft ◽  
...  

2021 ◽  
Vol 11 (6) ◽  
pp. 710
Author(s):  
Jannis Achenbach ◽  
Simon Faissner ◽  
Carsten Saft

Background: There is a broad range of potential differential diagnoses for chorea. Besides rare, inherited neurodegenerative diseases such as Huntington’s disease (HD) chorea can accompany basal ganglia disorders due to vasculitis or infections, e.g., with the human immunodeficiency virus (HIV). The clinical picture is complicated by the rare occurrence of HIV infection and HD. Methods: First, we present a case suffering simultaneously from HIV and HD (HIV/HD) focusing on clinical manifestation and disease onset. We investigated cross-sectional data regarding molecular genetic, motoric, cognitive, functional, and psychiatric disease manifestation of HIV/HD in comparison to motor-manifest HD patients without HIV infection (nonHIV/HD) in the largest cohort of HD patients worldwide using the registry study ENROLL-HD. Data were analyzed using ANCOVA analyses controlling for covariates of age and CAG repeat length between groups in IBM SPSS Statistics V.25. Results: The HD diagnosis in our case report was delayed by approximately nine years due to the false assumption that the HIV infection might have been the cause of chorea. Out of n = 21,116 participants in ENROLL-HD, we identified n = 10,125 motor-manifest HD patients. n = 23 male participants were classified as suffering from HIV infection as a comorbidity, compared to n = 4898 male non-HIV/HD patients. Except for age, with HIV/HD being significantly younger (p < 0.050), we observed no group differences regarding sociodemographic, genetic, educational, motoric, functional, and cognitive parameters. Male HIV/HD patients reported about a 5.3-year-earlier onset of HD symptoms noticed by themselves compared to non-HIV/HD (p < 0.050). Moreover, patients in the HIV/HD group had a longer diagnostic delay of 1.8 years between onset of symptoms and HD diagnosis and a longer time regarding assessment of first symptoms by the rater and judgement of the patient (all p < 0.050). Unexpectedly, HIV/HD patients showed less irritability in the Hospital Anxiety and Depression Scale (all p < 0.05). Conclusions: The HD diagnosis in HIV-infected male patients is secured with a diagnostic delay between first symptoms noticed by the patient and final diagnosis. Treating physicians therefore should be sensitized to think of potential alternative diagnoses in HIV-infected patients also afflicted by movement disorders, especially if there is evidence of subcortical atrophy and a history of hyperkinesia, even without a clear HD-family history. Those patients should be transferred for early genetic testing to avoid further unnecessary diagnostics and improve sociomedical care.


BMC Neurology ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Christoph Ohlmeier ◽  
Kai-Uwe Saum ◽  
Wolfgang Galetzka ◽  
Dominik Beier ◽  
Holger Gothe

Abstract Background Huntington’s disease (HD) is a rare, genetic, neurodegenerative and ultimately fatal disease with no cure or progression-delaying treatment currently available. HD is characterized by a triad of cognitive, behavioural and motor symptoms. Evidence on epidemiology and management of HD is limited, especially for Germany. This study aims to estimate the incidence and prevalence of HD and analyze the current routine care based on German claims data. Methods The source of data was a sample of the Institute for Applied Health Research Berlin (InGef) Research Database, comprising data of approximately four million insured persons from approximately 70 German statutory health insurances. The study was conducted in a retrospective cross-sectional design using 2015 and 2016 as a two-year observation period. At least two outpatient or inpatient ICD-10 codes for HD (ICD-10: G10) during the study period were required for case identification. Patients were considered incident if no HD diagnoses in the 4 years prior to the year of case identification were documented. Information on outpatient drug dispensations, medical aids and remedies were considered to describe the current treatment situation of HD patients. Results A 2-year incidence of 1.8 per 100,000 persons (95%-Confidence interval (CI): 1.4–2.4) and a 2-year period prevalence of 9.3 per 100,000 persons (95%-CI: 8.3–10.4) was observed. The prevalence of HD increased with advancing age, peaking at 60–69 years (16.8 per 100,000 persons; 95%-CI: 13.4–21.0) and decreasing afterwards. The most frequently observed comorbidities and disease-associated symptoms in HD patients were depression (42.9%), dementia (37.7%), urinary incontinence (32.5%), extrapyramidal and movement disorders (30.5%), dysphagia (28.6%) and disorders of the lipoprotein metabolism (28.2%). The most common medications in HD patients were antipsychotics (66.9%), followed by antidepressants (45.1%). Anticonvulsants (16.6%), opioids (14.6%) and hypnotics (9.7%) were observed less frequently. Physical therapy was the most often used medical aid in HD patients (46.4%). Nursing services and speech therapy were used by 27.9 and 22.7% of HD patients, respectively, whereas use of psychotherapy was rare (3.2%). Conclusions Based on a representative sample, this study provides new insights into the epidemiology and routine care of HD patients in Germany, and thus, may serve as a starting point for further research.


2020 ◽  
Vol 35 (5) ◽  
pp. 781-788 ◽  
Author(s):  
Parunyou Julayanont ◽  
Kenneth M. Heilman ◽  
Nikolaus R. McFarland

2018 ◽  
Vol 17 ◽  
pp. 312-324 ◽  
Author(s):  
Lora Minkova ◽  
Sarah Gregory ◽  
Rachael I. Scahill ◽  
Ahmed Abdulkadir ◽  
Christoph P. Kaller ◽  
...  

Sensors ◽  
2020 ◽  
Vol 20 (11) ◽  
pp. 3236 ◽  
Author(s):  
Andrius Lauraitis ◽  
Rytis Maskeliūnas ◽  
Robertas Damaševičius ◽  
Tomas Krilavičius

We present a model for digital neural impairment screening and self-assessment, which can evaluate cognitive and motor deficits for patients with symptoms of central nervous system (CNS) disorders, such as mild cognitive impairment (MCI), Parkinson’s disease (PD), Huntington’s disease (HD), or dementia. The data was collected with an Android mobile application that can track cognitive, hand tremor, energy expenditure, and speech features of subjects. We extracted 238 features as the model inputs using 16 tasks, 12 of them were based on a self-administered cognitive testing (SAGE) methodology and others used finger tapping and voice features acquired from the sensors of a smart mobile device (smartphone or tablet). Fifteen subjects were involved in the investigation: 7 patients with neurological disorders (1 with Parkinson’s disease, 3 with Huntington’s disease, 1 with early dementia, 1 with cerebral palsy, 1 post-stroke) and 8 healthy subjects. The finger tapping, SAGE, energy expenditure, and speech analysis features were used for neural impairment evaluations. The best results were achieved using a fusion of 13 classifiers for combined finger tapping and SAGE features (96.12% accuracy), and using bidirectional long short-term memory (BiLSTM) (94.29% accuracy) for speech analysis features.


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