p.N345K mutation in TARDBP in a patient with familial amyotrophic lateral sclerosis: An autopsy case

We report the neuropathology of a patient with a family history of amyotrophic lateral sclerosis (ALS) and a p.N345K mutation in the transactivation response DNA‐binding protein 43 kDa (TDP‐43) gene (TARDBP). A 62‐year‐old man had bulbar palsy with progressive weakness in the extremities. Neurologic...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Neuropathology 2019-08, Vol.39 (4), p.286-293
Hauptverfasser:	Takeda, Takahiro, Iijima, Mutsumi, Shimizu, Yuko, Yoshizawa, Hiroshi, Miyashiro, Mayu, Onizuka, Hiromi, Yamamoto, Tomoko, Nishiyama, Ayumi, Suzuki, Naoki, Aoki, Masashi, Shibata, Noriyuki, Kitagawa, Kazuo
Format:	Artikel
Sprache:	eng
Schlagworte:	Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis - genetics Amyotrophic Lateral Sclerosis - pathology astrocyte Astrocytes Autopsy Brain - pathology Bunina bodies DNA-Binding Proteins - genetics Electromyography Glial cells Humans Inclusion bodies Male Mechanical ventilation Middle Aged Motor neurons Motor Neurons - pathology Mutation Myelin Neuronal-glial interactions Neurons - pathology neuropathology p.N345K Paralysis Respiratory failure Spinal cord Spinal Cord - pathology TDP‐43 Urinary tract
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!