CLINICAL AND NEUROPATHOLOGICAL FEATURES OF A NEURODEGENERATIVE DISORDER IN THE CENTRAL-NERVOUS-SYSTEM WITH PROGRESSIVE HEAD DROOPING (KUBISAGARI)

The clinical and neuropathological features of a case of a neurodegene rative disorder with pronounced and progressive head drooping, in Japa nese Kubisagari, are reported. This female patient died at the age of 72 years after an approximately 20-year history of peculiar posture wi th progressive head drooping (Kubisagari) and lordosis (bowed posture) , parkinsonism, dysphonia and slight muscle wasting of the face, tongu e, neck, and distal portions of the upper extremities. She did not dis play mental deterioration until the terminal stage of the illness. A s imple macroscopic inspection of formalin-fixed sections of the central nervous system (CNS) showed prominent atrophic frontal and temporal l obes, brownish discoloration of the putamen and an atrophic pyramidal tract. Light microscopy revealed severe neuron loss with fibrillary gl iosis at both the above-mentioned lobes and the putamen. Both the faci al and hypoglossal nuclei had almost disappeared. Motor neurons in the spinal cord were moderately to markedly decreased. Neither Bunina nor Lewy bodies, senile plaque, nor Pick's argyrophilic neuronal inclusio ns were observed, but very occasionally ubiquitin-positive neurons wer e found in the temporal cortex. In conclusion, the hitherto-unrecogniz ed neuropathological findings in the CNS corresponding to progressive head drooping (Kubisagari) suggest that this is a neurodegenerative di sorder of the CNS, possibly an atypical form of amyotrophic lateral sc lerosis.