• 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.

• 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.

• 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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• 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.

• 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.