title: Familial tic disorder, parkinsonism, motor neuron disease, and acanthocytosis: a new syndrome.
abstract: We report two brothers who were of consanguineous parents and who displayed a unique association of motor and vocal tics, parkinsonism, distal muscular atrophy, and acanthocytosis. In the older brother, leg weakness and muscle wasting started at age 13, and he became wheelchair bound at 40. Electrophysiologic studies and muscle biopsy confirmed diffuse denervation. Involuntary vocalizations and facial tics began at age 36, but within 5 years the tics were replaced by progressive parkinsonism with supranuclear ophthalmoparesis. CSF studies implied impaired central dopamine and serotonin turnover. In the younger brother, orofacial tics started at age 36, vocalizations and fasciculations in the legs began 1 year later, and parkinsonian findings were present at age 40. This is the first report of an association of Tourettism, parkinsonism, motor neuron disease, and acanthocytosis occurring as an autosomal recessive syndrome.
mesh_terms: D000050:Acanthocytes / Q000473:pathology*; D000328:Adult; D003241:Consanguinity; D004913:Erythrocytes, Abnormal / Q000473:pathology*; D006402:Hematologic Diseases / Q000235:genetics; D006801:Humans; D008297:Male; D009046:Motor Neurons; D009468:Neuromuscular Diseases / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D013981:Tic Disorders / Q000235:genetics*