We report the clinical and neuropathologic phenotypes associated with two different missense mutations in the presenilin 1 (PS-1) gene in Japanese patients with early-onset familial Alzheimer's disease (FAD). In the AM/JPN1 pedigree a missense mutation (C-->T) was found at nucleotide 1102, which is predicted to cause an alanine-to-valine missense substitution at codon 260. In this family, the disease had a mean age of onset of 40.3 years and an indolent course (range, 8-19 years). Neuropathologic studies in 3 members of this pedigree showed widespread senile plaques, neurofibrillary tangles, and neuronal loss, as well as abundant perivascular subpial amyloid deposits in the Virchow-Robin spaces and the presence of Pick-like intraneuronal inclusions in the dentate gyrus. In the second pedigree, transmitting a C-->T nucleotide substitution at position 1027, leading to the missense mutation of alanine to valine at codon 285, the disease had a later onset (mean, 51 years) but a more rapid course. Comparison of the disease phenotypes associated with other missense mutations in exon 9 of PS-1 reveals no clinical or pathological phenotype, which uniquely distinguishes Alzheimer's disease associated with PS-1 mutations from other forms of early-onset FAD, implying that direct mutation screening is required to identify these cases.

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Objective To evaluate the effects of body weight-supported overground gait training (BWSOGT) on motor abilities, such as gait and balance, in patients with Parkinson’s disease (PD). Design Retrospective case-controlled observational study with a 4-week follow-up. Setting Inpatient rehabilitation. Participants We selected 37 of 68 patients with PD. Inclusion criteria were (1) Hoehn & Yahr stage II–IV, (2) no medication adjustment during the study period, (3) at least 1 week since last medication adjustment, and (4) ability to walk more than 10 meters on their own. Exclusion criteria were (1) cerebrovascular disease or other complications affecting movement, (2) difficulty in measurement, (3) early discharge, (4) medication change during the study, and (5) development of complications. Interventions Patients were divided into two groups. Patients in Group I underwent 20 minutes of BWSOGT with a mobile hoist in addition to the standard exercises; Group II performed 20 minutes of gait training in place of BWSOGT. In both groups, training was performed for a total of 15 times/4 weeks. Main outcome measure(s) Participants were evaluated using the Unified Parkinson’s Disease Rating Scale total, part II, and part III; 10-m walk test; velocity; stride length; 6-minute walk test; timed up and go test; Berg Balance Scale; and freezing of gait before and after the intervention. Results There were significant decreases in the Unified Parkinson’s Disease Rating Scale total, part II, and part III in both groups; however, 6-minute walk test, timed up and go test, and freezing of gait results only improved in Group I. Conclusions BWSOGT for patients with PD improves gait ability and dynamic balance more than standard gait training.

The coastal area of Fukushima prefecture is usually called "Hamadori", and Iwaki city occupies the southernmost part of Hamadori. Our hospital locates in the seashore of Iwaki city. The Fukushima Dai-ichi nuclear power plant, which developed a catastrophic accident after the Great East Japan Earthquake, locates in the middle part of Hamadori. On the 11th of March 2011, tsunamis caused by the great earthquake severely damaged our hospital and we were forced to evacuate inpatients to other hospitals for several months. Today the air radiation dose around our hospital is sufficiently low, but the anxiety for the re-attack of tsunami still remains. We are now planning the removal of our hospital to an inland estate. In the vicinity of the Fukushima Dai-ichi nuclear power plant, residence is still prohibited because of the grave radioactive contamination. On the other hand, the northern and southern parts of Hamadori are restoring their functions. The population of these areas is increasing gradually, but the number of medical staff is far from satisfactory level. As to neurology, only nine specialists work in Hamadori, so we strongly hope the recruitment of enthusiastic neurologists.