Autosomal Recessive Spinocerebellar Ataxia Type 9 With a Response to Phosphate Repletion: A Case Report.

IF 3 3区 医学 Q2 CLINICAL NEUROLOGY
Shotaro Haji, Ryosuke Miyamoto, Hiroyuki Morino, Yusuke Osaki, Seijiro Tsuji, Ichizo Nishino, Masahiro Abe, Yuishin Izumi
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Abstract

Objective: Autosomal recessive spinocerebellar ataxia type 9 (SCAR9) has received attention due to its potential response to coenzyme Q10 (CoQ10) supplementation; however, the response has so far been limited and variable.

Methods: We report a SCAR9 patient with severe hypophosphatemia who responded well to CoQ10 and phosphate repletion.

Results: A 70-year-old man (the offspring of a consanguineous marriage) presented with cerebellar ataxia and intense fatigue after exercise. Whole-exome sequencing identified a novel homozygous deletion mutation (NM_020247.5:c.1218_1219del) in COQ8A. We thus diagnosed him with SCAR9. Supplementation of CoQ10 alleviated his symptoms, with the Scale for the Assessment and Rating of Ataxia (SARA) dropping from 16 to 14. During the course of the disease, he demonstrated continuous hypophosphatemia caused by renal phosphate wasting. Gait dysfunction due to weakness and eye movement was partially alleviated, and SARA dropped from 17 to 13 after phosphate repletion.

Discussion: Phosphate repletion should be considered for patients with severe hypophosphatemia without any apparent subjective symptoms. In this case, phosphate repletion could have improved myopathy leading to partial improvement in the patient's symptoms. Further analyses regarding the association between COQ8A mutation and phosphate wasting are required to elucidate the detailed pathogenesis.

Classification of evidence: This provides Class IV evidence. This is a single observational study without controls.

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常染色体隐性脊髓小脑性共济失调9型伴磷酸盐补充:1例报告。
目的:常染色体隐性脊髓小脑性共济失调9型(SCAR9)因其对辅酶Q10 (CoQ10)补充的潜在反应而受到关注;然而,迄今为止的反应是有限和多变的。方法:我们报告了一位严重低磷血症的SCAR9患者,他对辅酶q10和磷酸盐补充反应良好。结果:70岁男性(近亲婚姻后代)运动后出现小脑性共济失调和剧烈疲劳。全外显子组测序在COQ8A中发现了一个新的纯合缺失突变(NM_020247.5:c.1218_1219del)。因此,我们诊断他患有SCAR9。补充辅酶q10减轻了他的症状,共济失调评估评分(SARA)从16降至14。在疾病过程中,他表现出由肾磷酸盐消耗引起的持续低磷血症。因乏力和眼动引起的步态障碍得到部分缓解,补磷后SARA由17降至13。讨论:对于没有明显主观症状的严重低磷血症患者,应考虑补充磷酸盐。在这种情况下,磷酸盐补充可能改善了肌病,导致患者症状的部分改善。需要进一步分析COQ8A突变与磷酸盐消耗之间的关系,以阐明详细的发病机制。证据分类:这提供了IV类证据。这是一项没有对照的单一观察性研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Neurology-Genetics
Neurology-Genetics Medicine-Neurology (clinical)
CiteScore
6.30
自引率
3.20%
发文量
107
审稿时长
15 weeks
期刊介绍: Neurology: Genetics is an online open access journal publishing peer-reviewed reports in the field of neurogenetics. Original articles in all areas of neurogenetics will be published including rare and common genetic variation, genotype-phenotype correlations, outlier phenotypes as a result of mutations in known disease-genes, and genetic variations with a putative link to diseases. This will include studies reporting on genetic disease risk and pharmacogenomics. In addition, Neurology: Genetics will publish results of gene-based clinical trials (viral, ASO, etc.). Genetically engineered model systems are not a primary focus of Neurology: Genetics, but studies using model systems for treatment trials are welcome, including well-powered studies reporting negative results.
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