Slow disease progression and characteristic TDP-43 inclusions in a patient with familial amyotrophic lateral sclerosis carrying a TARDBP G357S variant

Neuropathol Appl Neurobiol. 2024 Feb;50(1):e12966. doi: 10.1111/nan.12966.

Authors

Makoto Sainouchi¹, Shinya Oginezawa², Mari Tada¹, Tomohiko Ishihara^{2

3}, Osamu Onodera², Akiyoshi Kakita¹

Affiliations

¹ Department of Pathology, Brain Research Institute, Niigata University, Niigata, Japan.
² Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.
³ Advanced Treatment of Neurological Diseases Branch, Endowed Research Branch, Brain Research Institute, Niigata University, Niigata, Japan.

PMID: 38389123
DOI: 10.1111/nan.12966

No abstract available

Keywords: TARDBP; TDP-43; amyotrophic lateral sclerosis; astrocytic inclusions; neuropathology.

Publication types

Case Reports

MeSH terms

Amyotrophic Lateral Sclerosis* / genetics
DNA-Binding Proteins / genetics
Disease Progression
Humans
Mutation

Substances

DNA-Binding Proteins

Supplementary concepts

Amyotrophic lateral sclerosis 1

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