Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.

Ollier disease (OD) and Maffucci Syndrome (MS) are rare disorders characterized by multiple enchondromas, commonly causing bone deformities, limb length discrepancies, and pathological fractures. MS is distinguished from OD by the development of vascular anomalies. Both disorders are cancer predisposition syndromes with malignancies developing in ~50% of the individuals with OD or MS.

Preliminary analysis of Huntington's Disease in South Korea.

Background: There have been epidemiological studies of Huntington's disease (HD) in various populations and nations. Only a few studies describing clinical characteristics have been reported in Asia.

Objective: To conduct preliminary analyses of demographic, clinical and genetic characteristics of HD in South Korea.

Association between parkinsonism and participation in agriculture in Korea.

Background And Purpose: Environmental factors might influence the pathogenesis of Parkinson's disease (PD) or multiple-system atrophy (MSA), and previous examinations of pesticide exposure, well-water drinking, and farming have produced inconclusive results. Because agriculture has been of considerable importance to Korean society, and hence the risk of exposure to pesticides was high in Korea, this study investigated whether such exposure is associated with elevated risks of developing PD and MSA.

Methods: Two hundred and thirty-five PD patients, 133 MSA patients, and 77 normal control subjects were examined.

Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism.

Objectives: To examine the presence of an ATXN2 mutation in patients with parkinsonism in the Korean population and to find the difference in the ATXN2 mutation between ataxic and parkinsonian phenotypes.

Design: Survey.

Setting: Seoul National University Hospital (a referral center).