Background: Hereditary hemochromatosis (HH) is a genetic disorder causing pathological iron deposition and functional impairment of various organs, predominantly the liver. We assessed patients with HH for the presence of movement disorders. Methods: We reviewed the charts of 616 patients with HH who attended hemochromatosis clinic at London Health Sciences Centre, London, ON, Canada, from 1988 to 2015. Results: We found three HH patients with movement disorders, without any other major systemic manifestation. One had parkinsonism, another had chorea, and the third had tremor. All three patients had evidence of iron deposition in the brain, affecting the basal ganglia in the first two, and the dentate nucleus, red nucleus, and substantia nigra in the third patient. In addition to the C282Y homozygous mutation in the HFE gene, two of our patients had non-HFE gene mutations. Conclusion: HH should be considered in the differential diagnosis of movement disorders with pathological brain iron deposition. We report for the first time chorea in a patient with HH. Non-HFE gene mutations may predispose HH patients to iron deposition in the brain.

Individuals suffering from Huntington's disease (HD) have been shown to present with poor self-awareness of a variety of symptoms. The aim of this study was to better assess the self-awareness of motor symptoms and activities of daily living (ADL) impairment in HD, in comparison to Parkinson's disease (PD) and cervical dystonia (CD). In particular, the anosognosia/anosodiaphoria of involuntary movements has been investigated. Self-awareness was tested in 23 patients with HD by comparing patient and caregiver ratings in reference to clinical control groups (25 PD with dyskinesias, PDdys; 21 PD without dyskinesias, PDndys; and 20 with CD). Patients were assessed neurologically by relevant rating scales. Self-awareness was tested using a scale based on 15 films demonstrating 3 types of motor symptoms (chorea/dyskinesias, parkinsonism, torticollis) as well as the Self-Assessment Parkinson's Disease Disability Scale. General cognitive status, verbal learning, cognitive control, and mood were also analyzed. Our results indicate that self-awareness of choreic movements was affected more severely in HD than in PDdys, despite comparable cognitive status. Patient–proxy agreement on ADL impairment was roughly similar in all clinical groups. The results are discussed in the context of orbitofrontal–limbic pathology as a potential trigger of anosognosia/anosodiaphoria in individuals with HD. (JINS, 2011, 17, 788–795)

Behavioral changes and cognitive decline are the core clinical manifestations in the behavioral variant of frontotemporal dementia (bv-FTD). The behavioral changes may include characteristic stereotypic movements. These movements, although without clear purpose, are not involuntary. Involuntary movements are usually not seen in FTD.

Two patients with involuntary choreoathetoid movements but otherwise presenting a bv-FTD-phenotype were referred and Huntington's disease (HD) was suspected. The diagnoses of bv-FTD were made after comprehensive assessment and exclusion of other diagnoses, including HD and Huntington's disease-like (HDL) phenotypes. Although a definite diagnosis will require neuropathological confirmation, we conclude that a HDL phenotype may be part of the clinical spectrum of the bv-FTD phenotype.

We designed a multi-hospital prospective study of children less than 12 years to determine the comparative clinical profile, severity of carditis, and outcome on follow up of patients suffering an initial and recurrent episodes of acute rheumatic fever. The study extended over a period of 3 years, with diagnosis based on the Jones criteria. We included 161 children in the study, 57 having only one episode and 104 with recurrent episodes. Those seen in the first episode were differentiated from those with recurrent episodes on the basis of the history. The severity of carditis was graded by clinical and echocardiographic means. In those suffering their first episode, carditis was significantly less frequent (61.4%) compared to those having recurrent episodes (96.2%). Arthritis was more marked in the first episode (61.4%) compared to recurrent episodes (36.5%). Chorea was also significantly higher in the first episode (15.8%) compared to recurrent episodes (3.8%). Sub-cutaneous nodules were more-or-less the same in those suffering the first (7%) as opposed to recurrent episodes (5.8%), but Erythema marginatum was more marked during the first episode (3.5%), being rare in recurrent episodes at 0.9%. Fever was recorded in approximately the same numbers in first (45.6%) and recurrent episodes (48.1%). Arthralgia, in contrast, was less frequent in first (21.1%) compared to recurrent episodes (32.7%). A history of sore throat was significantly increased amongst those suffering the first episode (54.4%) compared to recurrent episodes (21.2%). When we compared the severity of carditis in the first versus recurrent episodes, at the start of study mild carditis was found in 29.8% versus 10.6%, moderate carditis in 26.3% versus 53.8%, and severe carditis in 5.3% versus 31.8% of cases, respectively. At the end of study, 30.3% of patients suffering their first episode were completely cured of carditis, and all others showed significant improvement compared to those with recurrent episodes, where only 6.8% were cured, little improvement or deterioration being noted in the remainder of the patients. We conclude that the clinical profile of acute rheumatic fever, especially that of carditis, is milder in those suffering their first attack compared to those with recurrent episodes.