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Namekawa M, Takiyama Y, Sakoe K, Nagaki H, Shimazaki H, Yoshimura M, Ikeguchi K, Nakano I, Nishizawa M. A Japanese SPG4 family with a novel missense mutation of the SPG4 gene: intrafamilial variability in age at onset and clinical severity. Acta Neurol Scand 2002: 106: 387–391. © Blackwell Munksgaard 2002. Objectives – We report the results of clinical and genetic studies on a Japanese SPG4 family. Material and methods – Family N included eight patients in four generations with autosomal dominant transmission. We performed neurological and molecular analyses on the SPG4 gene in the family members comprising three patients, 12 at-risk individuals, and three normal spouses. Results – The three patients showed pure spastic paraplegia, two of them exhibiting a decrease in vibration sense. There was marked intrafamilial variability in age at onset and clinical severity in the present family. On molecular analysis, a novel missense mutation (nt1579 C→T) in exon 12 of the SPG4 gene was found in the three patients, three probably affected, and an asymptomatic carrier. Conclusion – The present SPG4 family, which was shown to have a novel SPG4 mutation, exhibited marked variability in the clinical features, indicating the participation of additional factors in the phenotypic appearance of this family. [ABSTRACT FROM AUTHOR]

Botulism is a neuroparalytic disease caused by neurotoxins produced by Clostridium botulinum, and classically presents as palsies of cranial nerves and acute descending flaccid paralysis. Food-borne botulism is the most common form of botulism, and caused by preformed neurotoxins produced by Clostridium botulinum. Electrophysiological studies play an important role in the early diagnosis. Confirmation of the diagnosis is based on the detection of botulinum toxins in the patient's serum or stool. In Japan, decades ago, botulism type E occurred, though only sporadically, almost every year, but in recent years, has dramatically decreased in frequency. Botulism is a curable disease when treated early and adequately. Differential diagnosis of cranial nerves and limb muscle palsies with rapid exacerbation should include food-borne botulism.

Regenerative medicine aims to restore human functions by regenerating organs and tissues using stem cells or living tissues for the treatment of organ and tissue defects or dysfunction. Clinical trials investigating the treatment of cerebral infarction using mesenchymal stem cells, a type of somatic stem cell therapy, are underway. The development and production of regenerative medicines using somatic stem cells is expected to contribute to the treatment of cerebral infarction, a central nervous system disease for which there is no effective treatment. Numerous experimental studies have shown that cellular therapy, including the use of human dental pulp stem cells, is an attractive strategy for patients with ischemic brain injury. This review describes the basic research, therapeutic mechanism, clinical trials, and future prospects for dental pulp stem cell therapy, which is being investigated in Japan in first-in-human clinical trials for the treatment of patients with acute cerebral ischemia. [ABSTRACT FROM AUTHOR]

Complementary DNA encoding a part of myosin heavy chain was cloned from fast skeletal muscle of Japanese codling Physiculus japonicus. Japanese codling, a frequent catch off the Pacific coast of northeastern Japan, is a typical underutilized fish species, especially in summer. Phylogenetic analysis of the deduced amino acid sequence of Japanese codling myosin heavy chain loop 2 region revealed that this fish belongs to a group comprising white croaker Pennahia argentata and walleye pollack Gadus chalcogrammus, which are commonly used as raw materials for surimi-based products. Thus Japanese codling meat was considered a promising candidate ingredient for surimi-based products. Salt-ground meat was prepared from Japanese codling in the presence of 0.5 M NaCl and subjected to a two-step heating procedure: pre-heating at 15–70 °C for 30 min, and secondary heating at 85 °C for 20 min. Thermal gels with a maximum breaking strength of > 10 N were produced by this process. The breaking strength was comparable to that of white croaker and walleye pollack. On the basis of the phylogenetic analysis of myosin heavy chains, and the properties of the heat-induced surimi gel, we conclude that Japanese codling is a promising raw material for the production of surimi-based products. [ABSTRACT FROM AUTHOR]

Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous neurodegenerative disorders characterized by slowly progressive spasticity and weakness of the lower limbs. HSP is caused by failure of development or selective degeneration of the corticospinal tracts, which contain the longest axons in humans. The most common form of HSP is caused by mutations of the spastin gene ( SPAST), located on chromosome 2p21-p22, which encodes spastin, one of the ATPases associated with diverse cellular activities (AAA). In this study, we detected four causative mutations of SPAST among 14 unrelated patients with spastic paraplegia. Two missense mutations (1447A→G, 1207C→G) and two deletion mutations (1465delT, 1475-1476delAA) were located in the AAA cassette region. Three of these four mutations were novel. Previous reports and our results suggest that the frequency of SPAST mutations is higher among Japanese patients with autosomal dominant HSP, although SPAST mutations are also observed in patients with sporadic spastic paraplegia. [ABSTRACT FROM AUTHOR]