Early-motor phenotype relates to neuropsychiatric and cognitive disorders in huntington’s disease.

Publication date: Jan 10, 2020

To determine the relationships between the motor phenotype and the presence of specific neuropsychiatric and neuropsychological disorders in patients with early motor-manifest Huntington’s disease (HD).

From the Enroll-HD study, 3,505 individuals with HD who had ?5?years of motor symptoms were classified based on the predefined parkinsonism/chorea index into chorea-dominant (n = 1125), parkinsonism-dominant (n = 867), and mixed-motor phenotype (n = 1513) groups. An analysis was performed on the results of the short Problem Behaviors Assessment. This test assesses patients for neuropsychiatric disorders such as depression, irritability/aggression, apathy, obsessive-compulsive behaviors, and psychosis as well as cognitive disorders by using neuropsychological tests such as the Stroop Interference test, Trail Making Test Part A and B, letter fluency, Symbol Digit Modality test, and animal fluency test.

In these early motor-manifest HD individuals, motor phenotype was associated with neuropsychiatric and cognitive changes. Independent of the age of motor onset, motor duration and severity, CAG repeat expansion, and medication use, the parkinsonism-dominant group had more severe neuropsychiatric disorders (depression, apathy, obsessive-compulsive behaviors, and psychosis) and poorer performance on all cognitive tests than those patients in the mixed-motor phenotype and chorea-dominant groups. The patients in the chorea-dominant group had less apathy and depression than those in the mixed-motor phenotype group.

In the early stage of motor-manifest HD, parkinsonism-dominant patients appear to have more severe neuropsychiatric disturbances and more cognitive impairments than those HD patients with chorea-dominant and mixed-motor phenotypes. Future studies should explore the brain mechanisms of these disorders and the possible treatments. (c) 2020 International Parkinson and Movement Disorder Society.

Julayanont, P., Heilman, K.M., and McFarland, N.R. Early-motor phenotype relates to neuropsychiatric and cognitive disorders in huntington’s disease. 06875. 2020 Mov Disord.

Concepts Keywords
Brain Neuropsychiatric cognitive disorders
Chorea Motor phenotype chorea
Cognitive Disease
Depression Psychiatry
Huntington Organ systems
Irritability Medicine
Modality Psychiatric diagnosis
Neuropsychiatric RTT
Neuropsychological Neurological disorders
Neuropsychological Tests Huntington’s disease
Obsessive Compulsive Cognitive disorders
Parkinson Movement disorders
Parkinsonism Chorea
Phenotype Obsessive–compulsive disorder
Phenotypes Neuropsychiatry


Type Source Name
disease MESH chorea
disease MESH Problem Behaviors
disease MESH depression
disease MESH apathy
disease MESH compulsive behaviors
disease MESH psychosis
disease MESH cognitive impairments
disease MESH Movement Disorder


Original Article

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