Brain structure in juvenile-onset Huntington disease

Juvenile Huntington disease: CT and MR features.

PURPOSE To describe the clinical and radiologic manifestations of juvenile Huntington disease and to determine whether adult imaging criteria for Huntington disease are helpful for pediatric patients. METHODS Six patients (3 to 18 years of age; mean age, 9.8 +/- 5.6 years; 3 female, 3 male) with juvenile Huntington disease were studied with CT (n = 6) and/or MR (n = 3). CT and MR studies were...

Brain networks in Huntington disease.

Recent studies have focused on understanding the neural mechanisms underlying the emergence of clinical signs and symptoms in early stage Huntington disease (HD). Although cell-based assays have focused on cell autonomous effects of mutant huntingtin, animal HD models have revealed alterations in the function of neuronal networks, particularly those linking the cerebral cortex and striatum. The...

Clinical presentation of juvenile Huntington disease.

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...

Huntington disease: prenatal screening for late onset disease.

Dystonia-predominant adult-onset Huntington disease: association between motor phenotype and age of onset in adults.

BACKGROUND In juvenile Huntington disease (HD), dystonia as well as parkinsonism and eye movement abnormalities may be the predominant motor signs rather than chorea. Several patients have come to our attention with adult-onset HD in whom there is prominent dystonia and minimal chorea (ie, an adult-onset form of HD that resembles juvenile HD). OBJECTIVES To estimate the prevalence of these ca...