2017 年 34 巻 3 号 p. 278-282
Progressive supranuclear palsy (PSP) is a distinct neurodegenerative disorder with symptoms of supranuclear ophthalmoplegia affecting chiefly vertical gaze, pseudobulbar palsy, and postural instability with falls. It is sometimes difficult to distinguish clinically PSP from other parkinsonian syndromes, including corticobasal degeneration (CBD), Parkinson's disease, and multiple system atrophy. To identify the biomarker(s) associated with PSP and CBD for better understanding of a pathophysiology and clinical course, a multicenter registration consortium, the Japanese Longitudinal Biomarker Study in PSP and CBD (JALPAC), was established. Clinical information with biological samples (serum, plasma, and cerebrospinal fluid), gene (genomic DNA and lymphoblastoid cell), and magnetic resonance imaging (MRI) data were collected. The initial registration of 147 cases (78 males ; mean age, 72.6 years), including PSP in 87 patients, CBD in 36, others in 24 and the follow up registration of 32 cases one year later were carried out, and a total of 179 registrations was performed from November 2014 to October 2016. In the initial registration 147 particients, the clinical information, biological samples (serum 142 (100%), plasma 134 (94.4%), cerebrospinal fluid 107 (75.4%)), genomic DNA 133 (96.4%), lymphoblastoid cell 132 (95.7%) and MRI data 96 (67.6%) were stored. JALPAC has established an efficient registration and follow–up system with biological samples, genomic DNA, and MRI data from PSP/CBD patients in Japan. JALPAC will contribute to investigations of the natural history of PSP/CBD and identification of PSP/CBD–associated biomarkers and genes, and will promote clinical research.
