N. Nakao et al., CLINICAL AND NEUROPATHOLOGICAL FEATURES OF A NEURODEGENERATIVE DISORDER IN THE CENTRAL-NERVOUS-SYSTEM WITH PROGRESSIVE HEAD DROOPING (KUBISAGARI), Acta Neuropathologica, 90(2), 1995, pp. 208-212
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.