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표적패널염기서열분석 기술을 통해 진단한 SPG11유전자 변이를 보인 얇은 뇌량 유전경직하반신마비

SPG11 Mutation in Hereditary Spastic Paraplegia with Thin Corpus Callosum Diagnosed by Targeted Gene Panel Sequencing

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참고문헌 (7)

  1. Lynch DS, "Hereditary spastic paraplegia in Greece : characterisation of a previously unexplored population using next-generation sequencing", Eur J Hum Genet, 24, pp.857~863 (2016)
  2. Kim SM, "Novel compound heterozygous mutations of the SPG11 gene in Korean families with hereditary spastic paraplegia with thin corpus callosum", J Neurol, 256, pp.1714~1718 (2009)
  3. Kawarai T, "Late-onset spastic paraplegia : aberrant SPG11 transcripts generated by a novel splice site donor mutation", J Neurol Sci, 359, pp.250~255 (2015)
  4. Stevanin G, "Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration", Brain, 131, pp.772~784 (2008)
  5. Hehr U, "Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia", Ann Neurol, 62, pp.656~665 (2007)
  6. da Graça FF, "Neuroimaging in hereditary spastic paraplegias : current use and future perspectives", Front Neurol, 9, pp.1117~ (2019)
  7. 김태형, "Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia", Journal of Clinical Neurology, 10(3), pp.257~261 (2014), 대한신경과학회[DOI]

관련 논문AI추천

SPG 11 유전자 돌연변이를 보인 얇은 뇌량을 동반한 강직성 하지마비김상윤, 백민재, 장영희대한치매학회 · Dementia and Neurocognitive Disorders(대한치매학회지)2011 · 제10권 제1호Hereditary spastic paraplegia with thin corpus callosum due to novel homozygous mutation in SPG11 geneJoong Goo Kim, Jung Hwhan Oh, Sa-Yoon Kang대한임상신경생리학회 · Annals of Clinical Neurophysiology2020 · 제22권 제2호SPG4 유전자 변이에 의한 유전경직하반신마비를 보인 가족 1예김두응, 김정미, 박상은, 조은경, 조정선, 하상원, 한영수, 한정호대한임상신경생리학회 · Annals of Clinical Neurophysiology2005 · 제7권 제2호Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report도현정, 오자영, 이승옥, 장대현, 장자현, 조은해대한재활의학회 · Annals of Rehabilitation Medicine2016 · 제40권 제6호Hereditary Spastic Paraplegia with Axonal Sensorimotor Polyneuropathy in a Korean Family Caused by Pathogenic Variant of KIF5A (c.611G>A)김홍경, 나한규, 라윤경, 신새암, 이형우, 최영철대한신경과학회 · Journal of Clinical Neurology2020 · 제16권 제2호Comprehensive Characterization of Spastic Paraplegia in Korean Patients: A Single-Center Experience over Two Decades김수현, 김승우, 박형준, 신하영, 안성준, 오은경, 조정희, 최영철, 최윤정연세대학교의과대학 · Yonsei Medical Journal2026 · 제67권 제1호

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