Widening the MRI Findings of PLA2G6-Associated Neurodegeneration.
Widening the MRI Findings of PLA2G6-Associated Neurodegeneration.
复制标题
扩大 PLA2G6 相关神经退行性变的 MRI 结果。
DOI：
10.1055/s-0041-1731804
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发表时间：
2021
期刊：
影响因子：
1.4
通讯作者：
Alves,CésarAPF
中科院分区：
文献类型：
--
作者：
Vithayathil,Joseph;Adang,Laura;Alves,CésarAPF
一名 19 岁男性自 5 岁起就有运动和语言退化史。其他后续症状包括认知能力下降、共济失调和运动性震颤。脑部 MRI 显示小脑发育不全和萎缩，棒肥大，对称的铁沉积区域分布在黑质、苍白球和穹窿（► 图 1A-F）。出于对脑铁积累（NBIA）疾病引起的神经退行性疾病的担忧，基因检测结果显示 PLA2G6（c.1）中存在复合杂合变异。 986G> A (p. Arg329His)，一种已知的致病性变异，以及 c． 1675C> T (p. Pro559Ser)，意义不明的变体。鉴于临床病史和影像学结果，c。 1675C> T 变异被确定为致病性，这确立了非典型神经轴突营养不良 (NAD) 或儿童期发病的 PLA2G6 相关神经变性 (PLAN) 的最终诊断。非典型 NAD 以及
A 19-year-old male presented with a history of motor and language regression since 5 years of age. Other subsequent symptoms were cognitive decline, ataxia, and kinetic tremor. Brain MRI showed cerebellar hypoplasia and atrophy, clava hypertrophy, and symmetric areas of iron deposition distributed into the substantia nigra, globus pallidi, and fornix (► Fig. 1A–F). Due to concern for a neurodegeneration with brain iron accumulation (NBIA) disorder, genetic testing was sent that revealed compound heterozygous variants in PLA2G6, c. 986G> A (p. Arg329His), a known pathogenic variant, and c. 1675C> T (p. Pro559Ser), a variant of unknown significance. Given the clinical history and imaging findings, the c. 1675C> T variant was determined to be pathogenic which established a final diagnosis of atypical neuroaxonal dystrophy (NAD) or childhood-onset PLA2G6-associated neurodegeneration (PLAN). Atypical NAD along with