Background: and PurposeThe coast of Kyushu Island on Ariake Sea in Japan is known to be an accumulation area for patients with a proline-to-leucine substitution mutation at residue 102 (P102L) of the human prion protein gene (PRNP), which is associated with Gerstmann–Sträussler–Scheinker disease. We designated this geographical distribution as the “Ariake PRNP P102L variant.” The purpose of this study was to characterize the clinical features of this variant. Methods: We enrolled patients with the PRNP P102L variant who were followed up at the Saga University Hospital from April 2002 to November 2019. The clinical information of patients were obtained from medical records, including clinical histories, brain magnetic resonance imaging (MRI), and electroencephalography (EEG). A brain autopsy was performed on one of the participants. Results: We enrolled 24 patients from 19 family lines, including 12 males. The mean age at symptom onset was 60.6 years (range, 41–77 years). The incidence rate of the Ariake PRNP P102L variant was 3.32/1,000,000 people per year in Saga city. The initial symptoms were ataxia (ataxic gait or dysarthria) in 19 patients (79.2%), cognitive impairment in 3 (12.5%), and leg paresthesia in 2 (8.3%). The median survival time from symptom onset among the 18 fatal cases was 63 months (range, 23–105 months). Brain MRI revealed no localized cerebellar atrophy, but sparse diffusion-weighted imaging abnormalities were detected in 16.7% of the patients. No periodic sharp-wave complexes were identified in EEG. Neuropathological investigations revealed uni- and multicentric prion protein (PrP) plaques in the cerebral cortex, putamen, thalamus, and cerebellum of one patient. Western blot analysis revealed 8-kDa proteinase-K-resistant PrP. Conclusions This is the first report of the accumulation area of a PRNP P102L variant on the coast of Ariake Sea. The Ariake PRNP P102L variant can be characterized by a relatively long disease duration with sparse abnormalities in brain MRI and EEG relative to previous reports. Detailed interviews to obtain information on the birthplace and the family history of related symptoms are important to diagnosing a PRNP P102L variant.

OBJECTIVEThe aim of this study is to determine whether a questionnaire-based method using the Veterans Specific Activity Questionnaire (VSAQ) is a practical tool for the development of a safe exercise program to prevent a reduction in physical performance.

METHODSOne hundred and twenty-one senior residents of Yakage, Okayama, agreed to voluntarily participate in this study. They were asked to complete a questionnaire for information on age, sex, subjective health status, exercise habits and VSAQ. We investigated the relationship between age and exercise capacity predicted by VSAQ (predicted metabolic equivalents (METs)). In addition, for 36 out of the 121 participants, we performed a 6-min walk distance test (6MD) and investigated whether its results correlate with the predicted METs. Furthermore, we prepared a modified VSAQ and examined its practicality in the evaluation of the exercise capacity of Japanese elderly (n=50).

RESULTSWe found that the predicted METs correlate well with age. Habitual exercise and subjective health status did not affect the predicted METs. A significant correlation was observed between the predicted METs and the results of 6MD (r=0.56, p<0.001). We also found that certain activities included in the original VSAQ are unfamiliar to Japanese elderly; thus, we made a few modifications to the original VSAQ in order to evaluate the physical fitness of Japanese elderly. The number of inadequate answers was reduced by employing the modified VSAQ.

CONCLUSIONThese findings imply that the modified VSAQ is useful in evaluating the exercise capacity of Japanese elderly adequately and is a practical scale for safe exercise.

Since hand deformities in rheumatoid arthritis (RA) are relatively not very painful, the worsening of the deformities often goes unnoticed and the functional impairment progresses irreversibly. Herein, we report a case of boutonnière deformity of the left middle and ring fingers treated with rehabilitation since an early stage. The patient was a 58-year-old woman who was referred to our hospital due to joint pain in the fingers and feet, following which a diagnosis of RA as made；however, she could not be administered methotrexate due to complications. PIP joint deformity of the left middle and ring fingers developed later. The middle finger was in -50-degree extension and difficult to correct passively, while the ring finger was in -35-degree extension and correctable. Surgery for the left middle finger was proposed based on the diagnosis of boutonnière deformity；however, consent was not obtained. After a steroid injection in the painful middle finger, she was managed using a Capener splint and ROM exercises with finger stretching. The symptoms improved five months following the rehabilitation intervention. Nalebuff et al. classified the severity of the boutonnière deformity based on the limited PIP joint extension and recommended treatment accordingly. In this case, surgical treatment was believed to be required；however, since the patient refused surgery, conservative treatment was chosen. Although the extension was severe, there was little joint destruction, due to which the symptoms improved with early and active intervention. Orthotic treatment and occupational therapy were effective in improving ADL.

Since hand deformities in rheumatoid arthritis (RA) are relatively not very painful, the worsening of the deformities often goes unnoticed and the functional impairment progresses irreversibly. Herein, we report a case of boutonnière deformity of the left middle and ring fingers treated with rehabilitation since an early stage. The patient was a 58-year-old woman who was referred to our hospital due to joint pain in the fingers and feet, following which a diagnosis of RA as made；however, she could not be administered methotrexate due to complications. PIP joint deformity of the left middle and ring fingers developed later. The middle finger was in -50-degree extension and difficult to correct passively, while the ring finger was in -35-degree extension and correctable. Surgery for the left middle finger was proposed based on the diagnosis of boutonnière deformity；however, consent was not obtained. After a steroid injection in the painful middle finger, she was managed using a Capener splint and ROM exercises with finger stretching. The symptoms improved five months following the rehabilitation intervention. Nalebuff et al. classified the severity of the boutonnière deformity based on the limited PIP joint extension and recommended treatment accordingly. In this case, surgical treatment was believed to be required；however, since the patient refused surgery, conservative treatment was chosen. Although the extension was severe, there was little joint destruction, due to which the symptoms improved with early and active intervention. Orthotic treatment and occupational therapy were effective in improving ADL.