Novel SLC18A2 Variant in Infantile Dystonia-Parkinsonism Type 2.

IF 0.9 Q4 CLINICAL NEUROLOGY Case Reports in Neurological Medicine Pub Date : 2024-04-30 eCollection Date: 2024-01-01 DOI:10.1155/2024/4767647
Sakari Kaasalainen, Harri Arikka, Mika H Martikainen, Valtteri Kaasinen
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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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婴儿肌张力障碍-帕金森氏症 2 型中的新型 SLC18A2 变体
婴儿肌张力障碍-帕金森氏症 2 型(PKDYS2)是一种罕见的常染色体隐性遗传运动障碍疾病,在婴儿期发病。该病与溶质运载家族 18 成员 A2 基因(SLC18A2)的突变有关。有报告称,在使用多巴胺能药物的试验中,服用左旋多巴的患者病情几乎总是恶化,而多巴胺激动剂则会给一些患者带来不同程度的益处。在此,我们报告了一名患有 SLC18A2 基因新变异的 PKDYS2 患者,该患者接受了多种药物治疗试验。该病例在 2 个月大时首次发现发育异常和神经系统检查异常,经过一系列治疗尝试(如使用抗癫痫药)和诊断程序后,在 6 岁时进行的全外显子组测序(WES)发现 SLC18A2 基因存在同卵病理变异 NM_003054.4:c.1107dup,p.(Val370Serfs∗91),从而确定了 PKDYS2 的诊断。患者随后接受了多种多巴胺能药物(如左旋多巴、普拉克索和哌醋甲酯)的治疗。PKDYS2患者携带SLC18A2的一个新变体。该患者的表型与之前报道的一些 PKDYS2 患者相似。该患者从某些多巴胺能药物(如普拉克索)中略有获益,但副作用导致其停药。
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审稿时长
11 weeks
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