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TDP병리가 확인된 근위축측삭경화증 부검 증례

An Autopsy Confirmed Case of Amyotrophic Lateral Sclerosis with TDP Pathology

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주제분류신경과학

초록

The phosphorylated 43-kDa transactive response DNA-binding protein (TDP-43) was identified as a major disease protein in sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration. We present a case with progressive muscle weakness who was diagnosed with sporadic ALS. On postmortem examination, TDP-43 immunoreactive neuronal cytoplasmic inclusions were noted in motor cortex, hippocampus and anterior horns of spinal cord, which was compatible with ALS-TDP, stage 4. This is the first documented autopsy-confirmed ALS case with ALS-TDP pathology in Korea.

Abstract

The phosphorylated 43-kDa transactive response DNA-binding protein (TDP-43) was identified as a major disease protein in sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration. We present a case with progressive muscle weakness who was diagnosed with sporadic ALS. On postmortem examination, TDP-43 immunoreactive neuronal cytoplasmic inclusions were noted in motor cortex, hippocampus and anterior horns of spinal cord, which was compatible with ALS-TDP, stage 4. This is the first documented autopsy-confirmed ALS case with ALS-TDP pathology in Korea.

참고문헌 (8)

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  4. Saberi S, "Neuropathology of amyotrophic lateral sclerosis and its variants", Neurol Clin, 33, pp.855~876 (2015)
  5. Kawakami I, "The basis of clinicopathological heterogeneity in TDP-43 proteinopathy", Acta Neuropathol, 138, pp.751~770 (2019)
  6. Brettschneider J, "Stages of pTDP-43 pathology in amyotrophic lateral sclerosis", Ann Neurol, 74, pp.20~38 (2013)
  7. 하승현, "부검에서 신경염증 변화를 확인한 근위축측삭경화증 환자", 대한신경과학회지, 30(2), pp.128~131 (2012), 대한신경과학회[DOI]
  8. 김은주, "전두측두엽치매-운동신경세포질환의 부검증례", 대한신경과학회지, 33(3), pp.201~205 (2015), 대한신경과학회[DOI]

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