• 대한족부족관절학회지
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• 제8권1호
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• pp.111-113
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• 2004

In neurogenic equinovarus deformity, surgical intervention such as tendon transfer or osteotomy can be expected to improve symptoms. However, in rare cases of hereditary spastic paraplegia, the deformity and paralysis gradually progress. So limited operation and early post-operative rehabilitation are preferred to aggressive operation. We would like to report our clinical experience with one case of hereditary spastic paraplegia patient with reference review. A 40 year-old male, given tendon transfer of ankle and foot and tendo achilles lengthening 10 years ago, complained about aggravated spastic paraplegia which resulted in dynamic equinovarus and limited walking ability since his operation. Family history showed limited walking ability of his father with gradually progressing spastic paralysis and he was diagnosed as hereditary spastic paraplegia type I. We had performed a limited operation such as tendo achilles and tibialis posterior lengthening to induce plantigrade standing and walking with crutch. As a result, the patient was able to maintain a stabilized standing posture and walk after the operation. Hereditary spastic paraplegia presents with a progressive paralysis which limits rehabilitation after tendon transfer, and the symptoms can be aggravated. Therefore, considering potential hereditary neurogenic disorders in paients with equinovarus deformity and performing limited operative procedures seem to be important.

• 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.

• Annals of Clinical Neurophysiology
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• 제7권2호
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• pp.138-140
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• 2005

Strumpell, in 1880, was the first to describe familial case of spastic paraplegia characterized by progressive weakness and spasticity of the lower limbs with little or no involvement of the upper extremities. This syndrome is heterogeneous in inheritance, age of onset, severity and associated signs. We present one family with autosomal dominant hereditary spastic paraplegia (HSP) due to SPG4 (spastin) gene mutation which is confirmed by genomic DNA isolated from peripheral blood.

• 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.

• Annals of Clinical Neurophysiology
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• 제1권1호
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• pp.19-25
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• 1999

Background & Objectives : In cerebral palsy, spastic paraplegia is one of the most crippling motor manifestations. Reducing the spasticity may improve gait and decrease the incidence of lower-extremity deformities. The spasticity may result from abnormally increased afferent signals via dorsal roots onto interneurons and anterior horn and spreading of reflex activation to other muscle groups. To assess the influence of dorsal rhizotomy to spasticity, the authors analyzed five cerebral palsy patients with spastic paraplegia. Methods : The operation entailed and L1-2 laminectomy, ultrasonographic localization of conus medullaris and identification of lumbosacral dorsal roots. The innervation patterns of each dorsal root were examined by electromyography (EMG) responses to electrical stimulation. Tetanic stimulation was applied to individual rootlets of each root after reflex threshold was determined. the reflex responses were graded and rootlets producing high grade response were selected and cut. Short-term postoperative evaluations were performed. Results : Intraoperative EMG monitoring was satisfactorily performed in all five cases. One month after the operations, all patients showed greatly reduced spasticity which was measured by the instrumental gait analysis. Bilateral knee and ankle jerks were normalized and tip-toe gait with scissoring disappeared in all patients. Conclusion : Intraoperative EMG monitoring seems useful for the selective dorsal rhizotomy to reduce spasticity.

• Journal of Genetic Medicine
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• 제18권2호
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• pp.105-109
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• 2021

Tetrasomy 18p is a genetic syndrome caused by an isochromosome consisting of two copies of the short arm of chromosome 18. Clinically, pediatric cases of tetrasomy 18p manifest with global developmental delay, similar to most cases of chromosomal abnormality. In addition, it causes various symptoms including abnormal muscle tone. We report a case of an infant with global developmental delay and remarkable spasticity, the typical phenotype of bilateral spastic cerebral palsy. However, she had a subtle anomaly in her face, and brain magnetic resonance imaging (MRI) findings were inconsistent with her strong upper motor neuron signs. Upon genetic testing, she was determined to have an 18p isochromosome, confirming de novo non-mosaic tetrasomy 18p. Cerebral palsy is a neurological disorder that includes developmental delay caused by a non-progressive lesion in the developing brain. During diagnostic workup in patients with cerebral palsy, genetic testing should be considered when there are minor physical anomalies or equivocal MRI findings.

• 대한물리의학회지
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• 제11권2호
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• pp.1-11
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• 2016

PURPOSE: This study was conducted to assess the effects of local vibration on ankle plantarflexion spasticity and clonus in patients with spinal cord injury. METHODS: The subjects were 14 inpatients with complete or incomplete spinal cord injury (SCI) whose scores were higher than 1 on the Modified Ashworth Scale (MAS) and Spinal Cord Assessment Tool for Spastic Reflexes (SCATS) scale of paraplegia. A randomized single-blind cross-over design was used. Vibration treatment involved a single application of vibration for 10 min in the sitting position, and placebo treatment involved the patient remaining in the sitting position for 10 min. One day after treatment, vibration and placebo treatments were crossed over. Spasticity was measured by using the MAS, and resistance force, by using a hand-held dynamometer; clonus was gauged by using the SCATS scale and clonus burst duration. Additionally, the burst maximal frequency and voluntary ankle dorsiflexion angle of the triceps surae were measured. RESULTS: The application of vibration treatment in the sitting position significantly reduced the MAS scores and resistance force, but significantly increased the dorsiflexion angle of the ankle joint (p<0.05). Furthermore, the vibration treatment diminished the clonus burst duration and SCATS score significantly (p<0.05). Although it reduced the burst maximal frequency of the lateral gastrocnemius and medial soleus, this was significant only for the lateral gastrocnemius. The placebo treatment did not significantly affect any of the test parameters. CONCLUSION: Vibration treatment in the sitting position was effective in cases of spasticity and clonus caused by SCI.

• Toxicological Research
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• 제34권3호
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• pp.267-279
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• 2018

Neurolathyrism is a neurodegenerative disorder characterized by spastic paraplegia resulting from the excessive consumption of Lathyrus sativus (Grass pea). ${\beta}$-N-Oxalyl-L-${\alpha},{\beta}$-diaminopropionic acid (L-ODAP) is the primary neurotoxic component in this pea. The present study attempted to evaluate the proteome-wide alterations in chick brain 2 hr and 4 hr post L-ODAP treatment. Proteomic analysis of chick brain homogenates revealed several proteins involved in cytoskeletal structure, signaling, cellular metabolism, free radical scavenging, oxidative stress and neurodegenerative disorders were initially up-regulated at 2 hr and later recovered to normal levels by 4 hr. Since L-ODAP mediated neurotoxicity is mainly by excitotoxicity and oxidative stress related dysfunctions, this study further evaluated the role of L-ODAP in apoptosis in vitro using human neuroblastoma cell line, IMR-32. The in vitro studies carried out at $200{\mu}M$ L-ODAP for 4 hr indicate minimal intracellular ROS generation and alteration of mitochondrial membrane potential though not leading to apoptotic cell death. L-ODAP at low concentrations can be explored as a stimulator of various reactive oxygen species (ROS) mediated cell signaling pathways not detrimental to cells. Insights from our study may provide a platform to explore the beneficial side of L-ODAP at lower concentrations. This study is of significance especially in view of the Government of India lifting the ban on cultivation of low toxin Lathyrus varieties and consumption of this lentil.

• 대한소아신경학회지
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• 제25권3호
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• pp.204-207
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• 2017

Hyperornithinemia-hyperammonemia-homocitrullinuria 증후군(HHH 증후군)은 경한 학습장애에서 심각한 뇌증에 이르기까지 다양한 신경학적 증상을 보일 수 있는 신경대사질환이다. HHH 증후군은 임상 증상이나 대사 검사 결과가 뚜렷하지 않아 진단이 늦어지는 경우가 흔한데, 이러한 경우 유전자 검사로 확진하는 것이 중요하다. 저자들은 강직성 하반신 마비를 가진 소아와 무증상의 여동생에서 HHH 증후군을 진단하고 유전자 검사를 통해 SLC25A15 유전자의 c.535C>T (p.R179^*)와 c.116C>A (p.T39K) 변이를 확인하였다. p.R179^*는 일본과 중동의 HHH 환자들에서 흔히 발견되는 변이로 한국인에서도 발견됨을 확인하였고, p.T39K는 HHH 증후군을 유발하는 새로운 변이임을 최초로 보고하는 바이다.

• 한국임상수의학회지
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• 제30권4호
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• pp.320-323
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• 2013

척수 경색은 고양이에서 급성 척수 병증의 주요한 원인으로써 인식되고 있다. 사후 조직 병리학적 검사를 통해 확진 할 수 있지만 MR 영상학적 특징은 척수 경색의 진단에 가치있는 정보를 제공한다. 본 증례의 목적은 두 마리의 고양이에서 발생한 급성 척수 경색의 영상학적 특징을 설명하고 그 진단에 있어서 low field MRI (0.3 Tesla)의 유용성을 평가하는 것이다. 미확인 연령의 중성화 수컷, mixed breed 고양이가 급성의 사지 부전 마비를 주증으로 내원하였고 9살령의 중성화 암컷 domestic short hair 고양이는 후지 부전 마비로 내원하였으며 하루 후 후지 완전 마비가 나타났다. 이후 실시된 MR 영상에서 첫번째 고양이의 경우 두번째 경추부터 여섯번 째 경추 수준의 척수에서 병변이 분포하였으며 두번째 고양이의 경우 두번째 요추부터 다섯번째 요추 수준에서 병변이 나타났다. 두 고양이에서 공통적으로 주로 회백질에 분포한 척수 실질 내에 국소적인 병변이 확인되었으며 T2 강조 영상 및 FLAIR 영상에서 고신호를 나타내었고 DWI 영상에서 고신호, ADC map 에서는 저신호를 나타내었다. 히스토리, 임상증상 및 다른 실험실적 검사와 함께 MR 영상학적 특징을 통해 두 고양이에서 급성 척수 경색이 진단되었다.