What does this research mean for the field?

The p.Arg54Gly (Arg34Gly) substitution in the TTR gene is associated with hereditary ATTR amyloidosis characterized by prominent central nervous system involvement. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

To characterize the central nervous system manifestations and clinical profile associated with the rare p.Arg54Gly (Arg34Gly) transthyretin variant in hereditary ATTR amyloidosis.

August 28, 2026Amyloid

Hereditary ATTR amyloidosis with prominent central nervous system involvement associated with the p.Arg54Gly (Arg34Gly) substitution

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Authors

CCConsuelo CipriettiUniversity of Chieti-Pescara MRMirella RussoUniversity of Modena and Reggio Emilia GPGiuliano F. PatanèUniversity of Chieti-Pescara

Discussion

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Implication

Clinical report demonstrates severe central nervous system impairment in hereditary ATTR amyloidosis patients carrying the p.Arg54Gly variant, highlighting atypical neurological manifestations.

Key Points

To characterize the central nervous system manifestations and clinical profile associated with the rare p.Arg54Gly (Arg34Gly) transthyretin variant in hereditary ATTR amyloidosis.
Conducted clinical, genetic, and neurological evaluations in patients presenting with multisystem hereditary transthyretin amyloidosis.
Performed targeted TTR gene sequencing to detect specific pathogenic missense variants.
Identified the pathogenic p.Arg54Gly (Arg34Gly) substitution in the TTR gene causing misfolded transthyretin deposition.
Documented prominent central nervous system involvement alongside characteristic systemic organ dysfunction.

Cite This Study

Ciprietti et al. (2026) studied this question.

synapsesocial.com/papers/6a91467bd15324a1df3aa1dd https://doi.org/10.1080/13506129.2026.2719698

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Implication

Clinical report demonstrates severe central nervous system impairment in hereditary ATTR amyloidosis patients carrying the p.Arg54Gly variant, highlighting atypical neurological manifestations.

Hereditary ATTR amyloidosis with prominent central nervous system involvement associated with the p.Arg54Gly (Arg34Gly) substitution

Discussion

Member takes

Implication

Key Points

Cite This Study

Hereditary ATTR amyloidosis with prominent central nervous system involvement associated with the p.Arg54Gly (Arg34Gly) substitution

Discussion

Member takes

Implication

Key Points

Cite This Study

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