Two McLeod patients with novel mutations in XK.

McLeod syndrome (MLS) is a rare, X-linked, late-onset, disease involving hematological, brain, and neuromuscular systems, caused by mutations in XK that result in either defective XK or complete loss of XK protein. Acanthocytosis of erythrocytes is a typical feature. We report novel mutations in two patients who exhibited typical clinical characteristics of MLS.

Anterocollis: clinical features and treatment options.

Background: Anterocollis (AC) is a form of cervical dystonia (CD) that produces patterned, repetitive muscle contractions that result in neck flexion. It has been mainly described in the context of parkinsonian movement disorders including Parkinson's disease and multiple system atrophy.

Material/methods: We performed a review of consecutive AC patients seen in our Movement Disorders Clinic over a 15-year period.

Case of pediatric acquired chronic hepatocerebral degeneration.

Acquired chronic hepatocerebral degeneration is a central nervous system disorder secondary to several conditions related to hepatic dysfunction. Clinical features of acquired chronic hepatocerebral degeneration include a hyperkinetic extrapyramidal syndrome, neuropsychiatric symptoms, or both. We present for the first time a pediatric case of acquired chronic hepatocerebral degeneration secondary to endstage biliary disease.

Retrocollis: classification, clinical phenotype, treatment outcomes and risk factors.

Retrocollis (RC) is a form of cervical dystonia (CD) that produces patterned, repetitive muscle contractions that result in neck extension. We performed a review of consecutive CD patients seen in our Division over a 15-year period. Out of 399 CD patients, 59 (14.