OBJECTIVE To describe the clinical presentation a group of patients with juvenile onset of Huntington disease. METHOD All patients were interviewed following a structured clinical questionnaire. Patients were genotyped for the trinucleotide cytosine-adenine-guanine (CAG) repeat in the Huntington Disease gene. High resolution brain MRI was performed in all patients. RESULTS We identified 4 p...

Accumulation and aggregation of disease-causing proteins is a hallmark of several neurodegenerative disorders such as Parkinson, Alzheimer, and Huntington diseases. One of the main goals of research in neurodegenerative disorders has been to improve clearance of these accumulated proteins. Using the example of Huntington disease, I discuss strategies to selectively activate cellular degradation...

Huntington disease is caused by a dominantly transmitted CAG repeat expansion mutation that is believed to confer a toxic gain of function on the mutant protein. Huntington disease patients with two mutant alleles are very rare. In other poly(CAG) diseases such as the dominant ataxias, inheritance of two mutant alleles causes a phenotype more severe than in heterozygotes. In this multicentre st...

Our work suggests an important new link between the RCAN1 gene and Huntington disease. Huntington disease is caused by expansion of glutamine repeats in the huntingtin protein. How the huntingtin protein with expanded polyglutamines (mutant huntingtin) causes the disease is still unclear, but phosphorylation of huntingtin appears to be protective. Increased huntingtin phosphorylation can be pro...

Background: Clinician rating scales and patient-reported outcomes are the principal means of assessing motor symptoms in Parkinson disease and Huntington disease. However, these assessments are subjective and generally limited to episodic in-person visits. Wearable sensors can objectively and continuously measure motor features and could be valuable in clinical research and care. Methods: We re...

BACKGROUND The neuroanatomic basis of affective processing deficits in Huntington disease is insufficiently understood. We investigated whether Huntington disease-related deficits in emotion recognition and experience are associated with specific changes in grey matter volume. METHOD We assessed grey matter volume in symptomatic patients with Huntington disease and healthy controls using voxe...

OBJECTIVE To determine why patients with Huntington disease are apparently unaware of their involuntary movements. DESIGN Correlative study using a subjective report questionnaire of physical symptoms and objective measures of neurologic and cognitive dysfunction. PATIENTS Forty patients with Huntington disease attending a regional Huntington disease clinic. RESULTS Patients were poor at ...