Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy.

Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by parkinsonism, cerebellar ataxia and autonomic dysfunction. Pathogenic mechanisms remain obscure but the neuropathological hallmark is the presence of alpha-synuclein-immunoreactive glial cytoplasmic inclusions. Genetic variants of the alpha-synuclein gene, SNCA, are thus strong candidates for genetic association with MSA. One follow-up to a genome-wide association of Parkinson's disease has identified association of a SNP in SNCA with MSA

Spirituality as a universal experience of music: A case Study of North Americans’ approaches to Japanese music

Ethnomusicologists and music educators are in broad agreement that what makes each cultural expression of music unique are differences, not commonalities, and that these should be understood in culturally sensitive ways. Relevant to the debate was the emphasis on the socio-cultural context of music making over the traditional “sound-only” approach. In this study, North American practitioners of shakuhachi music provided a different angle on the view of music as culture-specific. What made these practitioners interested in shakuhachi playing were not so much cultural aspects of Japanese music as universal aspects of human experience identified in Japanese music, such as the feeling of being part of nature and the revitalization of humans’ organic sensitivities. For them, the cultural served as a hindrance to accessing the underlying spirituality of Japanese music. From their perspective, the opposite of the sound-only approach was not necessarily posited as a sociocultural approach but as a spiritual or physical approach that transcended cultural boundaries

Alpha-1 antichymotrypsin gene signal peptide A/T polymorphism and primary intracerebral hemorrhage

Background/Aims: Alpha-1 antichymotrypsin (ACT), a serine proteinase inhibitor, has been implicated in vascular pathology. The TT genotype of the ACT signal peptide A/T polymorphism has been reported to confer susceptibility to primary intracerebral hemorrhage (PICH). We conducted a prospective study to test possible association of ACT signal peptide A/T polymorphism with PICH in a Greek cohort with enough power (80%) to detect a twofold increase in the odds ratio. Methods: We prospectively recruited 147 patients with PICH. ACT signal peptide A/T genotypes were determined in patients and 206 healthy, age- and sex-matched control subjects from the neurology outpatient clinic using the polymerase chain reaction restriction fragment length polymorphism method. Results: Our study did not show an association between ACT signal peptide A/T polymorphism and PICH. We also failed to find any influence on age at onset, the location and volume of PICH as well as on clinical severity at admission or 6-month outcome. Conclusion: Our data failed to confirm an association between ACT signal peptide A/T polymorphism and PICH. However, we cannot exclude the possibility that the TT genotype confers susceptibility at less than a twofold increase. Copyright (c) 2008 S. Karger AG, Basel