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Article
July 1972

Late Onset Ataxia, Rigidity, and Peripheral Neuropathy: A Familial Syndrome With Variable Therapeutic Response to Levodopa

Author Affiliations

Kansas City, Kan; St. Louis
From the Department of Medicine, sections of neurology (Dr. Ziegler) and genetics (Dr. Schimke), departments of pathology (Dr. Kepes) and physical medicine (Dr. Rose), Kansas University Medical Center, Kansas City, Kan, and the Department of Neurology, Washington University, St. Louis (Dr. Klinkerfuss).

Arch Neurol. 1972;27(1):52-66. doi:10.1001/archneur.1972.00490130054008
Abstract

A family had a polymorphous neurological syndrome transmitted in autosomal dominant fashion. The clinical syndrome is one of late onset cerebellar ataxia, muscular rigidity, bradykinesia, dysarthria, fasciculations, muscle atrophy, and spasticity appearing in various combinations in affected individuals. Pathological studies on one case have revealed degeneration in spinocerebellar tracts, Purkinje cells and dentate nuclei of cerebellum, dorsal root ganglion cells, and cauda equina nerve roots. Peripheral neuropathy was present in several cases, as evidenced by demyelinating changes on sural nerve biopsy, and by characteristic changes in nerve conduction times and electromyography. Such changes on occasion preceded clinical signs of peripheral nerve disease. Several cases showed a therapeutic response to levodopa; only the symptom of rigidity was alleviated.

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