Familial tic disorder, parkinsonism, motor neuron disease, and acanthocytosis
- 1 March 1985
- journal article
- research article
- Published by Wolters Kluwer Health in Neurology
- Vol. 35 (3), 366
- https://doi.org/10.1212/wnl.35.3.366
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.This publication has 11 references indexed in Scilit:
- “Myopathic” changes in chorea-acanthocytosisJournal of the Neurological Sciences, 1982
- Movement Disorders of Familial Neuroacanthocytosis SyndromeArchives of Neurology, 1982
- Neurogenic muscular atrophy and low density of large myelinated fibres of sural nerve in chorea-acanthocytosis.Journal of Neurology, Neurosurgery & Psychiatry, 1981
- Elevated Serum Creatine Phosphokinase in Subjects with McLeod SyndromeVox Sanguinis, 1981
- ChoreoacanthocytosisArchives of Neurology, 1981
- A Pedigree of Amyotrophic Chorea With AcanthocytosisArchives of Neurology, 1980
- Gilles de la Tourette syndrome after long‐term chlorpromazine therapyNeurology, 1978
- Acanthocytosis WithoutArchives of Neurology, 1968
- A new hereditary acanthocytosis syndromeThe American Journal of Medicine, 1967
- Amyotrophic Lateral Sclerosis and Parkinsonism-Dementia Complex of GuamArchives of Neurology, 1966