• Annals of Clinical Neurophysiology
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• 제22권2호
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• pp.121-124
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• 2020

The most common form of autosomal recessive hereditary spastic paraplegia (HSP) is caused by mutations in SPG11/KIAA1840 gene, which encodes for spatacsin. The clinical presentation of SPG11 is characterized by cognitive impairment, peripheral neuropathy and a thin corpus callosum in brain magnetic resonance imaging. We identified a novel homozygous nonsense mutation (c.6082C>T [p.Q2028]) in exon 32 of SPG11 in Korean siblings. Our findings suggest that this novel homozygous mutation in SPG11 is associated with HSP and with dysgenesis of the corpus callosum.

• 한국융합학회논문지
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• 제11권6호
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• pp.393-400
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• 2020

본 연구는 테니스 1st 플랫서브 동작에서 어깨 통증 유무에 따른 견갑골의 움직임 차이를 확인하기 위해 테니스 선수 15명(남8, 여7)을 대상으로 3차원 영상분석시스템을 활용하여 견갑골의 앞쪽/뒤쪽 기울임, 아래쪽/위쪽 회전 및 안쪽/바깥쪽 회전에 대한 각속도와 모멘트를 산출하여 이를 집단 간 비교 분석을 하였다. 그 결과, 앞쪽/뒤쪽 기울임에 대한 최대 각속도는 실험군인 어깨통증집단(SPG)보다 대조군 집단(CG)이 빠른 경향을 보였으며, 팔로우 스로우 구간을 제외하고 모든 국면에서 안쪽/바깥쪽 회전 최대 각속도가 SPG가 CG보다 빠른 것으로 나타났다. 후기 코킹 구간에서의 앞쪽/뒤쪽 기울임 최대 모멘트가 SPG보다 CG가 더 크게 나타났고 통계적으로 유의한 차이를 보였다. 코킹 구간의 위쪽/아래쪽 회전 최대 모멘트 또한 SPG가 CG보다 작게 나타나면서 통계적으로 유의한 차이를 보였다. 안쪽/바깥쪽 회전 모멘트는 모든 국면에서 CG가 SPG보다 큰 것으로 나타났다.

• Genomics & Informatics
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• 제20권3호
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• pp.30.1-30.9
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• 2022

Hereditary spastic paraplegia is a not common inherited neurological disorder with heterogeneous clinical expressions. ALDH18A1 (located on 10q24.1) gene-related spastic paraplegias (SPG9A and SPG9B) are rare metabolic disorders caused by dominant and recessive mutations that have been found recently. Autosomal recessive hereditary spastic paraplegia is a common and clinical type of familial spastic paraplegia linked to the SPG11 locus (locates on 15q21.1). There are different symptoms of spastic paraplegia, such as muscle atrophy, moderate mental retardation, short stature, balance problem, and lower limb weakness. Our first proband involves a 45 years old man and our second proband involves a 20 years old woman both are affected by spastic paraplegia disease. Genomic DNA was extracted from the peripheral blood of the patients, their parents, and their siblings using a filter-based methodology and quantified and used for molecular analysis and sequencing. Sequencing libraries were generated using Agilent SureSelect Human All ExonV7 kit, and the qualified libraries are fed into NovaSeq 6000 Illumina sequencers. Sanger sequencing was performed by an ABI prism 3730 sequencer. Here, for the first time, we report two cases, the first one which contains likely pathogenic NM_002860: c.475C>T: p.R159X mutation of the ALDH18A1 and the second one has likely pathogenic NM_001160227.2: c.5454dupA: p.Glu1819Argfs Ter11 mutation of the SPG11 gene and also was identified by the whole-exome sequencing and confirmed by Sanger sequencing. Our aim with this study was to confirm that these two novel variants are direct causes of spastic paraplegia.

• 한국연초학회지
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• 제13권1호
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• pp.69-73
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• 1991

Varietal response to cool temperature(18$^{\circ}C$) and short (8hr.)-day treatment were investigated under controlled conditions of Phytotron in the Suwon Agronomy Experiment Station. Five flue-cured and one burley tobacco varieties (Nicotiana tabacum L.) were used, and the length of treatment ranging from 8 to 32 days at 3-day intervals and also includes continuous treatment up to the plants were flowered. The days to flower decreased significantly than the no treatment when the length of treatment was 11 to 14 days for the varieties NC82, Br.21 and NC22NF, and 17 to 26 days for SPG-28, Mc.944 and TC499, respectively. And also the number of leaves decreased significantly than the no treatment when the length of treatment was 8 days for NC22NF, 11days for NC82 and Br.21, 14 days for Mc.944, and 17 days for SPG-28 and TC499, respectively. The maximum decreasing ratio of the leaf number by the cool temperature and short-day treatment were 47.7 to 58.5% for NC82, Br.21 and NC22NF, and 38.9% for Mc.944, 33.4% for SPG-28 and 29.0% for TC499, respectively.