A1 Refereed original research article in a scientific journal

Novel SLC18A2 Variant in Infantile Dystonia-Parkinsonism Type 2




AuthorsKaasalainen Sakari, Arikka Harri, Martikainen Mika H., Kaasinen Valtteri

PublisherHindawi

Publication year2024

JournalCase Reports in Neurological Medicine

Article number4767647

eISSN2090-6676

DOIhttps://doi.org/10.1155/2024/4767647

Web address https://www.hindawi.com/journals/crinm/2024/4767647/

Self-archived copy’s web addresshttps://research.utu.fi/converis/portal/detail/Publication/393407198


Abstract

Infantile dystonia-parkinsonism type 2 (PKDYS2) is a rare inherited autosomal recessive movement disorder with onset in infancy. The disease is associated with a mutation in the solute carrier family 18 member A2 gene (SLC18A2). There are reports of trials with dopaminergic drugs and the condition of patients given levodopa almost always worsens and dopamine agonists give varying degrees of benefit to some. Here, we report a PKDYS2 patient with a new variant in the SLC18A2 gene who underwent multiple trials of pharmacotherapy. The abnormalities in development and neurological examination of the case were first noted at the age of 2 months, and after a series of treatment attempts (e.g., with antiepileptics) and diagnostic procedures, the diagnosis of PKDYS2 was determined when whole exome sequencing (WES) at age 6, revealed a homozygous pathologic variant NM_003054.4:c.1107dup, p.(Val370Serfs91) in the SLC18A2 gene. The patient then received treatment with multiple dopaminergic drugs (e.g., levodopa, pramipexole, and methylphenidate). The patient with PKDYS2 harbored a new variant in SLC18A2. The phenotype of the patient resembles that of some previously reported patients with PKDYS2. The patient received minor benefits from certain dopaminergic drugs, such as pramipexole, but side effects led to the discontinuation of tested medications.


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Open Access funding was enabled and organized by FinELib 2023.


Last updated on 2024-28-11 at 12:18