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NEUROLOGY 1985;35:1184
© 1985 American Academy of Neurology

Familial neuropathy with dementia, retinitis pigmentosa, and dysautonomia

Kyoko Ozawa, MD, Kyoko Saida, MD, Takahiko Saida, MD, Keiji Imoto, MD and Hiroshi Nishitani, MD

Department of Npurology and Clinical Research Center, Utano National Hospital, Kyoto, Japan.

We studied a 59-year-old woman with dementia, retinitis pigmentosa, sensorimotor neuropathy, and attacks of vomiting associated with blood pressure lability and loss of consciousness. Abnormalities included CT evidence of cerebral atrophy, low IQ, slow central and peripheral nerve conduction velocities, axonal degeneration in sural nerve biopsy, and elevated levels of cate-cholamines and slow waves in EEG during attacks. Her sister, two brothers, and daughter also had progressive muscle weakness, visual disturbance, and similar vomiting attacks. The hereditary nervous system disorder does not fit any previously described condition.

Address correspondence and reprint requests to Dr. Ozawa, Department of Neurology and Clinical Research Center. Utano National Hospital, Narutaki, Ukyo-ku, Kyuto 616, Japan.

This report was supported by a grant from National Center for Nervous, Mental and Muscular Disorders (NCNMMD) of the Ministry of Health and Wrlfare, Japan, and grants for the study of disorders of peripheral nerve and subacute myelo-optic neuropathy from the Intractable Disease Division. Public Health Bureau. Ministry of Health and Welfare. Japan.

Accepted for publication November 19, 1984






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