Objective Because it is often difficult to precisely diagnose and distinguish progressive supranuclear palsy (PSP) from corticobasal degeneration (CBD), multiple system atrophy-parkinsonism (MSA-P) and Parkinson's disease (PD) at the onset of the disease, we compared the patients and clarified the features of these diseases. Methods We compared 77 PSP, 26 CBD, 26 MSA-P and 166 PD patients from clinical and imaging points of view including cerebral blood flow (CBF) in the frontal eye field. Results The clinical characteristics of PSP were supranuclear gaze disturbance, optokinetic nystagmus (OKN) impairment and falls at the first visit. On head MRI, midbrain tegmentum atrophy was much more frequently detected in PSP than in all of the other groups. Heart-to-mediastinum average count ratio (H/M) in iodine-123 meta-iodobenzyl guanidine ( 123 I-MIBG) myocardial scintigraphy was not decreased in PSP, CBD, MSA-P and PD-Yahr 1 (-1), but patients of PD-2, 3, 4 and 5 showed a significant decrease compared with the PSP group. The CBF in the left frontal eye field of PD-3 group and that in right frontal eye field of PD-3 and PD-4 groups were lower than that of PSP group, although other groups showed a tendency without a significant decrease compared with PSP group. Conclusion PSP is distinguishable from CBD, MSA-P and PD even at the early stage with extra-ocular movement (EOM) disturbance, falls, atrophy of the midbrain tegmentum, and H/M in 123 I-MIBG myocardial scintigraphy, and the reduction of CBF in area 8 could serve as a supplemental diagnostic method for distinguishing PSP from PD-3 or PD-4.

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A total of 1,000 neurological patients were examined for genetic testings at the Department of Neurology, Okayama University, from 1992 to 2010. To investigate the role and significance of genetic testings in neurological diagnostic consultation, we divided the analysis period into two, the former period (1992 to 2000) and the latter period (2001 to 2010). The number of genetic testings was 669 cases in the former period, and 331 cases in the latter period. However, the positive rate of genetic testings was 25.3% in the former period, and 48.1% in the latter period. The reason of this remarkable rise of the positive rate in the latter period was mainly attributable to our feedback inquiry to the doctors from 2001, noticing them the total number of test in a year, positive rate with or without family history, and an encouragement to examine more clinical details of their patients. The genetic testing plays an essential role in clinical neurology. It is important that the application of genetic testing to each case should be considered more carefully and properly.