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6 Possible Causes for TDP43-Positive Neuronal Inclusions

  • Motor Neuron Disease

    We observed the presence of PD and MND lesions with TDP43-positive cytoplasmic inclusions in the spinal cord and bulbar nuclei but not in the dentate gyrus and neocortex.[ncbi.nlm.nih.gov] The MND was characterized by a severe degeneration of bulbar and cervical lower motor neurons.[ncbi.nlm.nih.gov]

  • Amyotrophic Lateral Sclerosis

    neuronal inclusions that are the pathological hallmark of both ALS and frontotemporal dementia (FTD) 20.[ncbi.nlm.nih.gov] TAR DNA-binding protein (TARDBP) A landmark event in our understanding of ALS pathogenesis was the discovery that the TDP43 protein is a major component of the ubiquitin-positive[ncbi.nlm.nih.gov]

  • Perry Syndrome

    Perry syndrome is a rare atypical parkinsonism with depression, apathy, weight loss, and central hypoventilation caused by mutations in dynactin p150glued (DCTN1). A rare distal hereditary motor neuropathy, HMN7B, also has mutations in DCTN1. Perry syndrome has TAR DNA-binding protein of 43 kDa (TDP-43) inclusions[…][ncbi.nlm.nih.gov]

  • Miyoshi Muscular Dystrophy Type 3

    The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving[mendelian.co] […] motor neurons, and deposition of pathologic TDP43 ( TARDBP ) aggregates.[mendelian.co]

  • X-Linked Scapuloperoneal Myopathy

    The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving[mendelian.co] […] motor neurons, and deposition of pathologic TDP43 ( TARDBP ) aggregates.[mendelian.co]

  • Revesz Syndrome

    […] grain pathology, and case 5 showed sparse neuronal cytoplasmic TDP43 protein inclusions in the granule cells of the dentate gyrus.[link.springer.com] Case 4 additionally showed scattered alpha-synuclein positive Lewy bodies and Lewy neurites in the substantia nigra and dorsal nucleus of the vagus nerve and argyrophilic[link.springer.com]

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