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Article

Pearls & Oy-sters: AARS2 Leukodystrophy-Tremor and Tribulations.

Neurology - 23 Apr 2024

Green Katy, MacIver Claire L, Ebden Sian, Rees D A, Peall Kathryn J

Abstract excerpt

A 35-year-old woman with a progressive, bilateral upper limb tremor, personality change, behavioral disturbance, and primary ovarian insufficiency was found to have AARS2-related leukodystrophy. She had congenital nystagmus which evolved to head titubation by age 8 years and then developed an upper limb tremor in her mid-teens. These symptoms stabilized during her 20s, but soon after this presentation at age 35...

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Source

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Identifiers

PMID: 38507676
DOI: 10.1212/WNL.0000000000209296
PMCID: PMC11168286

Genes

AARS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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