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An autopsy case of familial amyotrophic lateral sclerosis with a TARDBP Q343R mutation
Author(s) -
Okamoto Koichi,
Fujita Yukio,
Hoshino Eri,
Tamura Yuhji,
Fukuda Toshio,
Hasegawa Masato,
Takatama Masamitsu
Publication year - 2015
Publication title -
neuropathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.701
H-Index - 61
eISSN - 1440-1789
pISSN - 0919-6544
DOI - 10.1111/neup.12209
Subject(s) - amyotrophic lateral sclerosis , pathology , tardbp , autopsy , biology , cytoplasmic inclusion , anterior horn cell , atrophy , medicine , cytoplasm , genetics , disease , sod1
We describe a J apanese autopsy case of familial amyotrophic lateral sclerosis ( FALS ) with a TARDBP Q343R mutation. This male patient developed dysarthria at the age of 52 years, and bulbar symptoms progressed, with weakness and atrophy in the extremities. His mental status was normal, but he became bedridden, received artificial respiratory support at 54 years of age, and gradually acquired a locked‐in state and died at 58 years of age. Microscopically, marked diffuse myelin pallor was observed in the anterolateral columns of the spinal cord. The remaining anterior horn cells contained B unina bodies and phosphorylation‐dependent transactivation response DNA ‐binding protein of 43 kDa ( pTDP ‐43)‐positive neuronal cytoplasmic inclusions ( NCIs ). Glial cytoplasmic inclusions ( GCIs ) were also observed. The number of ubiquitin‐ and p62‐positive inclusions was markedly lower than that of pTDP ‐43‐positive inclusions. NCIs and many fine dot‐like pTDP ‐43‐positive granules in the neuropil were mainly seen in the temporal and motor cortices, and striatum. NCIs were rare in hippocampal granular cells. Immunoblotting of samples from the cerebral cortex using an anti‐ pTDP ‐43 antibody was slightly different from previous TDP ‐43 pathological subtypes.