[Intracytoplasmic eosinophilic inclusions in dorsal root ganglia and spinal nerve roots from an autopsy case of unusual familial ataxia with cerebrospinal fluid abnormality].
Studies were performed on the light and electron microscopic structures of the dorsal root ganglia (DRG) and spinal nerve roots of the 4th lumbar nerve obtained by autopsy from a 49-year-old man with unusual familial ataxia, who showed varied neurological manifestations such as progressive ataxia, action tremors, pyramidal tract signs, mild deep sensory disturbances and autonomic dysfunctions during a 30-year period of illness, and had 2 siblings, one male and female, similarly affected and close consanguineous marriages in his family. On laboratory examinations, blood chemistry disclosed no significant findings. Repeated spinal taps showed constant xanthochromia and elevated protein in the cerebrospinal fluids. A PEG and cranial CTs revealed a progressive brain atrophy. NCVs and EMGs in the extremities were within normal limits. There was no chromosomal abnormality. Light microscopically, intracytoplasmic eosinophilic inclusions (IEIs) with pale rim, which showed varied sizes and rounded shapes, occurred within neurons in the DRG, particularly in small neurons. Many of the small neurons had numerous IEIs, and several rounded granules with a high degree of eosinophilia, measuring below 5 microns in diameter. Generally the small neurons showed atrophic, while most large neurons showed no remarkable change although they had a small number of IEIs and granules located in the perikaryal periphery. Most satellite cells, and some Schwann cells in the DRG, ventral and dorsal roots had IEIs similar to those seen in the neurons. No IEIs occurred intraaxonally, and there was seen no degenerative process in the DRG and roots except a connective tissue fiber proliferation in the DRG.(ABSTRACT TRUNCATED AT 250 WORDS)
Nakamura
I
I
Department of Neuropsychiatry, Kanazawa University School of Medicine, Japan.
Kurachi
M
M
Fukutani
Y
Y
Katsukawa
K
K
Kobayashi
K
K
Suzuki
M
M
Kawasaki
Y
Y
Yamaguchi
N
N
Torii
H
H
D001259:Ataxia / Q000134:cerebrospinal fluid / Q000235:genetics / Q000473:pathology*; D002556:Cerebrospinal Fluid Proteins / Q000134:cerebrospinal fluid; D003594:Cytoplasmic Granules / Q000473:pathology / Q000648:ultrastructure; D004721:Endoplasmic Reticulum / Q000648:ultrastructure; D005727:Ganglia, Spinal / Q000473:pathology* / Q000648:ultrastructure; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009474:Neurons / Q000473:pathology / Q000648:ultrastructure; D013126:Spinal Nerve Roots / Q000473:pathology* / Q000648:ultrastructure
D002556:Cerebrospinal Fluid Proteins