Better global and cognitive functioning in choreatic versus hypokinetic‐rigid Huntington's disease

Hart, Ellen P.; Marinus, Johan; Burgunder, Jean Marc; Bentivoglio, Anna Rita; Craufurd, David; Reilmann, Ralf; Saft, Carsten; Roos, Raymund A.C.

doi:10.1002/mds.25422

Cited by 34 publications

(41 citation statements)

References 21 publications

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“…For classification into predominantly choreatic, mixed or bradykinetic-rigid motor phenotypes, we used the method recently described by Hart et al (2013). For the choreatic subtype, the items of the chorea scale, adding up to 28 and for bradykinetic-rigidity subtype, finger taps, pronatesupinate hands, bradykinesia, rigidity, items measuring speed of movement and rigidity, again with a maximum of 28, were added.…”

Section: Methodsmentioning

confidence: 99%

“…For subdivision into predominantly choreatic or bradykinetic-rigid types, the scores for the two subtypes had to differ by at least one standard deviation. If the difference was smaller, this participant was considered as a mixed motor type participant, as described by Hart et al (2013). This results in 15 choreatic, 27 hypokinetic-rigid, and 5 mixed subjects in our collective.…”

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…Besides chorea, however, all other kinds of movement disturbances, such as bradykinesia, dystonia, tremor or myoclonus can occur (Saft et al 2006;Hart et al 2013;Rudzinska et al 2013). In most cases a combination of more choreatic, bradykinetic or dystonic symptoms can be observed, which is also reflected by the main items of the Unified Huntington's Disease Rating Scale (UHDRS) motor scale (Hart et al 2013;Huntington Study group 1996). Bradykinesia is present in very early stages of the disease and was found to be correlated with loss of D2 binding in the striatum and impaired cognitive processing (Sanchez-Pernaute et al 2000;Thompson et al 1988).…”

Section: Introductionmentioning

confidence: 99%

“…Dystonia in HD was discussed to be due to the loss of parvalbuminergic striatal interneurons as a possible pathophysiological contributor (Reiner et al 2013). Recently, a method was described to differ between the choreatic, bradykinetic or mixed subtypes of HD (Hart et al 2013).…”

Section: Introductionmentioning

confidence: 99%

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Echogenicity of basal ganglia structures in different Huntington’s disease phenotypes

et al. 2014

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In Huntington's disease (HD), a neurodegenerative-inherited disease, chorea as the typical kind of movement disorder is described. Beside chorea, however, all other kinds of movement disturbances, such as bradykinesia, dystonia, tremor or myoclonus can occur. Aim of the current study was to investigate alterations in the echogenicity of basal ganglia structures in different Huntington's disease phenotypes. 47 patients with manifest and genetically confirmed HD were recruited. All participants underwent a thorough neurological examination. According to a previously described method, classification into predominantly choreatic, mixed or bradykinetic-rigid motor phenotypes was performed depending on subscores of the Unified Huntington's Disease Rating Scale. In addition, findings in juvenile HD were compared to adult HD. Transcranial sonography was performed by investigators blinded to clinical classification. There were no significant differences in basal ganglia echogenicities between the three phenotypes. Size of echogenic area of substantia nigra (SN) correlated positively with CAG repeat and bradykinesia subscore, and negatively with age of onset and chorea subscore. Comparing juvenile and adult HD subtypes, SN hyperechogenicity was significantly more often detectable in the juvenile form (100 vs. 29.3 %, p = 0.002). Regarding echogenicity of caudate or lentiform nuclei, no significant differences were detected. HD patients with the juvenile variant exhibit marked hyperechogenicity of substantia nigra. No significant differences in basal ganglia echogenicities between predominantly choreatic, mixed or bradykinetic-rigid motor phenotypes were detected.

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Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Echogenicity of basal ganglia structures in different Huntington’s disease phenotypes

et al. 2014

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Functional and cognitive capacity differ in dystonic motor subtypes when compared to choreatic and hypokinetic‐rigid motor subtypes in Huntington's disease

2020

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Background Motor phenotypes in Huntington's disease vary manifold. Phenotype classification is essential to adapt treatment. The aim of this study was to classify a dystonic subtype closer. Methods A total of 7,512 manifest ENROLL‐HD participants were subdivided into mainly choreatic ( N = 606), dystonic ( N = 402), and hypokinetic‐rigid ( N = 369) subjects. Cognitive (verbal fluency, symbol digit, stroop color, trail making, Mini‐Mental State Examination), functional (total functional capacity, Independence Scale), and psychiatric (problem behaviors assessment, Hospital Anxiety and Depression Scale) performance was evaluated at baseline visit. Results Symptoms onset for dystonic were similar to hypokinetic‐rigid, but earlier compared to choreatic subjects ( p < .001). Cognition was better in both groups compared to hypokinetic rigid (all p < .001). Functionality differed between all groups (all p < .001). Differences remained (all p < .001) after controlling for CAP score, CAG, age, disease duration, and education. Conclusions Motor subtypes differ in functional and cognitive capacities but less in psychiatric. We identified better cognitive and functional capacities and similar onsets in predominant dystonic compared to hypokinetic‐rigid patients.

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Identifying and verifying Huntington's disease subtypes: Clinical features, neuroimaging, and cytokine changes

Cao,

Yin,

et al. 2024

Brain and Behavior

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AimsHuntington's disease (HD) is a progressive neurodegenerative disorder with heterogeneous clinical manifestations. Identifying distinct clinical clusters and their relevant biomarkers could elucidate the underlying disease pathophysiology.MethodsFollowing the Enroll‐HD program initiated in 2018.09, we have recruited 104 HD patients (including 21 premanifest) and 31 health controls at Beijing Tiantan Hospital. Principal components analysis and k‐means cluster analysis were performed to determine HD clusters. Chi‐square test, one‐way ANOVA, and covariance were used to identify features among these clusters. Furthermore, plasma cytokines levels and brain structural imaging were used as biomarkers to delineate the clinical features of each cluster.ResultsThree clusters were identified. Cluster 1 demonstrated the most severe motor and nonmotor symptoms except for chorea, the lowest whole brain volume, the plasma levels of IL‐2 were higher and significantly associated with cluster 1. Cluster 2 was characterized with the most severe chorea and the largest pallidum volume. Cluster 3 had the most benign motor symptoms but moderate psychiatric problems.ConclusionWe have identified three HD clusters via clinical manifestations with distinct biomarkers. Our data shed light on better understanding about the pathophysiology of HD.

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Better global and cognitive functioning in choreatic versus hypokinetic‐rigid Huntington's disease

Abstract: Patients with a predominantly choreatic motor phenotype performing better in all areas than patients with a hypokinetic-rigid motor phenotype.

Cited by 34 publications

References 21 publications

Echogenicity of basal ganglia structures in different Huntington’s disease phenotypes

Echogenicity of basal ganglia structures in different Huntington’s disease phenotypes

Functional and cognitive capacity differ in dystonic motor subtypes when compared to choreatic and hypokinetic‐rigid motor subtypes in Huntington's disease

Identifying and verifying Huntington's disease subtypes: Clinical features, neuroimaging, and cytokine changes

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