|Budget Amount *help
¥3,000,000 (Direct Cost : ¥3,000,000)
Fiscal Year 1998 : ¥900,000 (Direct Cost : ¥900,000)
Fiscal Year 1997 : ¥2,100,000 (Direct Cost : ¥2,100,000)
1. In situ hybridization
Seventeen-day-old fetus and neonate rats were served for in situ hybridization study. A 35S-labeled c-RNA probe from MJD-1 was synthesized as was previously described (Nishiyama et al, Ann Neurol 1997). Sagittally sliced whole bodies of rats were snap-frozen and processed for in situ hybridization. However, no significant signal was obtained.
2. Genotype-phenotype correlation
Eight cases of genetically-determined Machado-Joseph disease (MJD) were studied morphologically. The case number, age, sex and the size of normal and expanded alleles were as follows : #1, 77year-old male, 23/64 ; #2, 78yea-old female, 21/69 ; #3, 44year-old male, 25/75 ; #4, 62year-old female, 14/76 ; #5, 46year-old male, 29/77 ; #6, 49 year-old male, 14/77 ; #7,44 year-old male, 23/79 ; #8, 32 year-old male, 19/79. Ubiquitin immunocytochmistry was applied to all the sections of the central nervous system, in order to elucidate the presence of intranuclear neuronal inclusions. α B-crystallin
e immunocytochemistry was applied to the sections including subthalmic nucleus and the density of the immunoreactive oligodendroglia was calculated. Intranuclear inclusions were seen in very small number of pontine neurons and showed no correlation with the length of the expanded alleles. In contrast, the density of oligodendroglia was definitely increased, compared with normal controls. The density calculated by age showed correlation with the length of the expanded allele. This finding statistically resembled the decrease of neurons in the striatum in Huntington's disease and could represent the core pathology of MJD.
3. Comparative pathological study of Haw-River syndrome (HRS) and DRPLA
Two cases of HRS and six cases of DRPLA were pathologically studied. Both showed prominent grumosus alteration in the dentate nuclei and pallido-luysian degeneration. Axonal spheroids emphasized in HRS were also seen in some cases of DRPLA. Thus, these two cases were essentially the same and the name of HRS may only represent geographical cluster. Less