Non-choreic movement disorders as initial manifestations of Huntington's disease

Abstract

Huntington's disease (HD) is an autosomal dominantly inherited, progressive, neurodegenerative disorder characterized by cognitive decline, psychiatric disturbances, and involuntary movements -classically choreic. Symptoms usually present with slow progression leading to dementia and death approximately 15-20 years after disease onset 1 . Symptoms begin insidiously, most commonly between the ages of 35 and 50 years, with substantial variation that depends, in part, on the CAG repeat expansion length 1 . Chorea, or choreoathetosis, is the movement disorder most frequently associated with HD, although some individuals may exhibit other forms of motor symptoms as their initial presentation 1,6,7 .We describe the clinical features of a cohort of Brazilian HD patients who initially presented with movement disorders other than chorea. We also investigate the correlation of the clinical profile of this subgroup with their respective CAG expansion length in comparison with "typical" choreic HD patients. METHODWe evaluated 44 individuals from a total of 30 families followed at the Movement Disorders Unit from 1996 to 2000 with final diagnosis of HD. All patients presented motor symptoms as their initial manifestation of the disorder and were assessed by the same author (NB) using ABSTRACT -We describe seven patients with genetically confirmed Huntington's disease (HD) who had non-choreic movement disorders as presenting symptoms or signs. Patients with movement disorders other than chorea in the early stages tended to have larger CAG trinucleotide repeat expansion in comparison with more "typical" HD patients.

JPH3 repeat expansions cause a progressive akinetic-rigid syndrome with severe dementia and putaminal rim in a five-generation African-American family

“…Our patients showed no response to levodopa, similar to observations reported for the hypokinesia seen in more advanced cases of HD [6]. In line with a previous report [7], we noted the presence of dystonia and myoclonus, both of which can be seen in HD, in some family members with HDL2 [8]. Progressive weight loss, which was an early sign in the original family with HDL2 [1], occurred throughout the disease course in our kindred, and is a common feature of HD.…”

Chinese patients with Huntington's disease initially presenting with spinocerebellar ataxia

“…Juvenile HD, which is usually associated with expansions containing 60 or more CAG triplet repeats, often presents with dystonia or epilepsy (21). Patients who develop atypical movements during the course of the disease are also likely to harbor long expansions (12). However, in Squitieri's study (4), no difference was found in the average CAG numbers between patients with atypical onset motor symptoms and patients with typical ones.…”

Huntington Disease in Asia

“…Some adult-onset HD patients have atypical onset symptoms instead of chorea, behavioral of psychiatric disorders, and progressive dementia. Two western studies summarized the nonspecific onset movement including abnormalities of Parkinsonism, dystonia, ataxia, and tics[ 6 7 ] [ Table 1 ]. In Chinese adult-onset HD patients, atypical initial symptom of ataxia was reported.…”