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Hereditary branchial myoclonus with spastic paraparesis and cerebellar ataxia

A new autosomal dominant disorder

From Servicio de Neurologia, Hospital Clinico de la Facultad de Medicina (Drs. de Yebenes, Vazquez, Rabano, de Seijas, Urra, Obregon, Barquero, Arribas, and Moreno), and Servicio de Resonancia Magnetica Nuclear (Dr. Alenda), Madrid, Spain.

We report a family with branchial myoclonus, spastic paraparesis, and cerebellar ataxia in which six members were affected in two generations and the inheritance appeared to be autosomal dominant. Age at onset ranged from 40 to 50 years. Rhythmic myoclonus involving the palate, pharynx, larynx, and face was followed by truncal ataxia and spastic paraparesis in most patients. CT and MRI revealed mild atrophy of the cerebral and cerebellar cortex and severe atrophy of the medulla and spinal cord. The pons appeared normal and the olives not hypertrophic. CSF studies revealed severe reduction of the serotonin metabolite 5-hydroxyindoleacetic acid. Treatment with 5-hydroxytryptophan and carbidopa at highest tolerated dose mildly improved ataxia but did not modify the myoclonus. Treatment with anticholinergics, benzodiazepines, phenytoin, valproate, carbamazepine, and baclofen was unsuccessful. The clinical symptoms were progressive, leading to death or severe disability 5 to 10 years after the onset of the disease.

Address correspondence and reprint requests to Dr. de Yebenes, Servicio de Neurologia, Hospital Clinico de S. Carlos, c/o Martin Lagos, Ciudad Universitaria, Madrid 28015, Spain.

Received June 4, 1987. Accepted for publication in final form August 20, 1987.

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