The McLeod syndrome without acanthocytes.

A 45-year-old man developed chorea, behavioural changes, moderate amyotrophy and polyneuropathy. Hypertrophic cardiomyopathy and increased serum lactate dehydrogenase and creatine kinase (CK) were found. Acanthocytes were not detected. The absence of XK protein and faintly expressed Kell antigens on erythrocytes were found. Genetic test revealed a R133X mutation of the XK gene, confirming the McLeod syndrome. After 7 years he suddenly developed delirium followed by severe hypoglycaemia, hyperthermia, rhabdomyolysis, hepatic and renal failure. Malignant arrhythmia caused death.

Unified Huntington's disease rating scale: clinical practice and a critical approach.

The purpose of this study was to test the usefulness of the Unified Huntington's Disease Rating Scale (UHDRS) in clinical practice. The UHDRS was used to examine 45 persons with genetically diagnosed Huntington's disease (HD) in various stages. The rate of motor involvement, cognitive deficit and reliance on nursing care rose in linear proportion to HD duration. The severity of motor involvement correlated significantly with all UHDRS subscales except for that of behavioral disorders, the rate of these disorders being unrelated to any of the parameters under study. The number of CAG triplets was inversely correlated with the age at onset of HD. Being considerably time consuming, administration of the whole UHDRS calls for interdisciplinary co-operation. For valid data acquisition, the participation of caregivers is also essential. In clinical practice it is advisable regularly to monitor the patient's conditions and the efficacy of treatment using the UHDRS motor, functional and behavioral subscales. Cognitive tests present difficulties but, in view of the progressive cognitive deterioration in HD, they are very useful in the early stage of the disease. The UHDRS does not assess impaired voluntary motor activity, or furnish information relating to therapy, dysphagia, weight loss, sexual problems or drug abuse.

The relationship between impairment of voluntary movements and cognitive impairment in Huntington's disease.

The relationship between motor symptoms and cognitive impairment in Huntington's disease (HD) is still discussed. We analysed 45 HD patients in various stages using Unified Huntington's Disease Rating Scale motor subscale (voluntary and involuntary components were evaluated separately), verbal memory and executive functions tests. Partial correlations controlling for HD duration and age were used to estimate the relationships among factor scores for motor and cognitive impairment. Voluntary components of motor performance were found to be significantly correlated with verbal short-term memory disturbances (r = -0.361, P = 0.03), with tests of executive functions more dependent on motor performance (r = 0.640, P < 0.01) and also with tests of executive functions less dependent on motor performance (r = 0.461, P < 0.01). Involuntary components did not correlate significantly with any part of cognitive performance.