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"Hereditary spastic paraplegia"

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"Hereditary spastic paraplegia"

Case Reports
Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report
Ja-Young Oh, Hyun Jung Do, Seungok Lee, Ja-Hyun Jang, Eun-Hae Cho, Dae-Hyun Jang
Ann Rehabil Med 2016;40(6):1129-1134.   Published online December 30, 2016
DOI: https://doi.org/10.5535/arm.2016.40.6.1129

Next-generation sequencing, such as whole-genome sequencing, whole-exome sequencing, and targeted panel sequencing have been applied for diagnosis of many genetic diseases, and are in the process of replacing the traditional methods of genetic analysis. Clinical exome sequencing (CES), which provides not only sequence variation data but also clinical interpretation, aids in reaching a final conclusion with regards to genetic diagnosis. Sequencing of genes with clinical relevance rather than whole exome sequencing might be more suitable for the diagnosis of known hereditary disease with genetic heterogeneity. Here, we present the clinical usefulness of CES for the diagnosis of hereditary spastic paraplegia (HSP). We report a case of patient who was strongly suspected of having HSP based on her clinical manifestations. HSP is one of the diseases with high genetic heterogeneity, the 72 different loci and 59 discovered genes identified so far. Therefore, traditional approach for diagnosis of HSP with genetic analysis is very challenging and time-consuming. CES with TruSight One Sequencing Panel, which enriches about 4,800 genes with clinical relevance, revealed compound heterozygous mutations in SPG11. One workflow and one procedure can provide the results of genetic analysis, and CES with enrichment of clinically relevant genes is a cost-effective and time-saving diagnostic tool for diseases with genetic heterogeneity, including HSP.

Citations

Citations to this article as recorded by  
  • A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delay
    Kyu-Sun Lee, Miri Choi, Dae-Woo Kwon, Doyoun Kim, Jong-Moon Choi, Ae-Kyeong Kim, Youngwook Ham, Sang-Bae Han, Sungchan Cho, Chong Kun Cheon
    Scientific Reports.2020;[Epub]     CrossRef
  • Correlation Between Vanishing White Matter Disease and Novel Heterozygous EIF2B3 Variants Using Next-Generation Sequencing: A Case Report
    Sung Eun Hyun, Byung Se Choi, Ja-Hyun Jang, Inpyo Jeon, Dae-Hyun Jang, Ju Seok Ryu
    Annals of Rehabilitation Medicine.2019; 43(2): 234.     CrossRef
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Complex Form of Hereditary Spastic Paraplegia: Case reports.
Paik, Nam Jong , Kim, Chang Won
J Korean Acad Rehabil Med 1997;21(5):1017-1023.

Hereditary spastic paraplegia(HSP) is a familial disorder which is inherited by autosomal dominant, autosomal recessive or sex linked pattern. Strumpell first described a familial case of spastic paraplegia characterized by progressive weakness and spasticity of the lower limbs.

We have experienced two cases of hereditary spastic paraplegia with mental retardation and extrapyramidal symptoms with variable severity. They were sisters. Physical examination revealed increased deep tendon reflexes in all four extremities with extensor plantar reflex, and sensory losses mainly affecting joint position and vibration sensations. One case was dysmorphic. The pattern of inheritance was uncertain but considered as an autosomal recessive type. Electrodiagnostic study revealed mild slownesses in motor conduction velocities, reduced amplitude of sensory nerve action potentials and profuse abnormal spontaneous activities in distal lower extremity muscles. Somatosensory evoked potentials were not obtainable from both lower extremity stimulations, but attenuated responses without delayed latencies were obtainable from both upper extremity stimulations.

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