colleagues (Degenerative cerebellar ataxia and focal dystonia, Movement Disorders 1988;3:336-342) reported eight patients with a variety of cerebellar ataxias in whom focal dystonia was a prominent presenting feature. I wish to report a further case in which there is neuropathological confirmation of a diagnosis of multiple system atrophy without autonomic involvement in the proband's mother.
The proband is a 36-year-old novelist who presented in July 1987 with neck pain followed a few weeks later by involuntary deviation of her chin to the left. This was treated unsuccessfully with pimozide and anticholinergic drugs; she was admitted to the National Hospital for Nervous Diseases in May 1988 when she was noted to have a severe torticollis with marked overactivity, particularly of the left splenius, left trapezius, and sternomastoid muscles. In addition, she had a mild cerebellar dysarthria. The following investigations were normal: serum copper studies, serum thyroxine, urea and electrolytes, serum calcium, blood glucose, and full blood count. There were no acanthocytes seen on three wet blood films, and serological tests for syphilis were negative. A magnetic resonance imaging scan of the brain showed significant brainstem atrophy with mild cerebellar atrophy. Her spasmodic torticollis was treated with moderate success with botulinus toxin.
The family history suggested an autosomal dominantly inherited condition. Her maternal aunt had an ataxic disorder and died in her 50s and her maternal grandfather may also have been affected; he also died in his mid-50s. Her mother developed a cerebellar ataxia with dysarthria in her 30s and died in a nursing home with muscle wasting and weakness at the age of 50 from bronchopneumonia. A postmortem, carried out by Dr. Trevor Hughes in Ox- ford, revealed a fixed brain weight of 1,094 g with a hind brain weighing 95.7 g with marked cerebellar and brainstem atrophy. There was a marked degeneration of the cerebellum, and the Purkinje cells were severely degenerated with only about 10% of the neuronal cell bodies surviving. The white matter of the Cerebellum was also degenerated, and there was severe depletion of neurones in the dentate nucleus. There was marked atrophy of the superior cerebellar peduncles, the inferior olives had lost neucones and showed gliosis, and there was degeneration of the oculomotor, facial, and hypoglossal nerve nuclei. The corticospinal tracts in the mid-brain, pons, and medulla were also degenerated. In the spinal cord there was some degeneration in the posterior columns and complete and severe degeneration of the spinocerebellar tracts. Clarke's column was severely degenerated and there was depletion of the anterior horns at all spinal cord segmental levels. This report supports the heterogeneity of autoso-ma1 dominant multiple system degenerations and consolidates the clinical reports of Fletcher and colleagues.