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Pearls and Oy-sters: AARS2 leukodystrophy – tremor and tribulations

Green, Katy, MacIver, Claire L., Ebden, Sian, Rees, D. A. ORCID: and Peall, Kathryn J. ORCID: 2024. Pearls and Oy-sters: AARS2 leukodystrophy – tremor and tribulations. Neurology 102 (8) 10.1212/WNL.0000000000209296

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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 years, neurologic and behavioral disturbances progressed rapidly over a 12-month period requiring transition to an assisted living facility with care support (4 visits/day) and assistance for all activities of daily living. MRI of the brain demonstrated confluent white matter changes predominantly involving the frontal lobes consistent with a leukodystrophy. All other investigations were unremarkable. Nongenetic causes of a leukodystrophy including sexually transmitted diseases and recreational drug use were excluded. Family history was negative for similar symptoms. Gene panel testing identified compound heterozygous pathogenic AARS2 mutations. This case highlights the importance of MRI brain imaging in progressive tremor syndromes, the utility of gene panels in simultaneous testing of multiple disorders with overlapping phenotypes, and the need for awareness of comorbid endocrinological disorders in many of the genetic leukodystrophies, whose identi�fication may aid in clinical diagnosis

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Neuroscience and Mental Health Research Institute (NMHRI)
Cardiff University Brain Research Imaging Centre (CUBRIC)
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Publisher: American Academy of Neurology
ISSN: 0028-3878
Date of First Compliant Deposit: 20 February 2024
Date of Acceptance: 31 January 2024
Last Modified: 29 May 2024 14:45

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