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Reduced Soluble Ubiquilin2 in Amyotrophic Lateral Sclerosis Carrying Ubiquilin2 (P494L) Mutation: Clinicopathological and Biochemical Evidence From an Autopsy Case.

Neuropathology and applied neurobiology - 1 Aug 2026

Adachi Tadashi, Nakano Toshiya, Yoshida Kentaro, Suzuki Yuki, Sakuwa Mayuko, Hasegawa Masato, Jannah Alfi Raudatil, Hara Norikazu, Miyashita Akinori, Ikeuchi Takeshi, Hanajima Ritsuko

Abstract excerpt

We report the clinicopathological and biochemical findings of ALS associated with a UBQLN2 P494L mutation. Autopsy revealed widespread TDP-43 pathology and UBQLN2-positive inclusions. Immunoblot analysis demonstrated a marked reduction of soluble UBQLN2, supporting functional UBQLN2 insufficiency as a pathogenic mechanism underlying TDP-43 aggregation.

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Identifiers

PMID: 42411953
DOI: 10.1111/nan.70091

Genes

UBQLN2

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