Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystonia.

IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL

Cold Spring Harbor Molecular Case Studies Pub Date : 2022-10-01 DOI:10.1101/mcs.a006236

Emilie Neerup Nielsen, Birna Ásbjörnsdóttir, Lisbeth Birk Møller, Jørgen Erik Nielsen, Suzanne Granhøj Lindquist

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引用次数: 1

Abstract

Episodic ataxia type 1 and 2 (EA1 and EA2) are the most well-described of the episodic ataxias. They are autosomal dominantly inherited early-onset diseases characterized by attacks of cerebellar dysfunction. EA1 is clinically characterized by short episodes of ataxia with interictal myokymia, whereas EA2 is characterized by longer-lasting recurrent ataxia, slurred speech, and interictal nystagmus. We report on a patient with EA2 with interictal focal dystonia and also interictal myokymia, which is hitherto not reported as an interictal feature associated to EA2. The patient carries a previously described heterozygous pathogenic de novo frameshift variant in the CACNA1A gene, establishing the diagnosis of EA2. She had symptom onset at age 13 and from age 48 she developed interictal myokymia and focal dystonia as illustrated in Supplemental Movie S1. We conclude that interictal myokymia and focal dystonia may be interictal features associated to EA2 caused by the cerebellar pathophysiology of EA2. Episodes of ataxia were successfully treated with acetazolamide in low dose, whereas the interictal features were unresponsive to acetazolamide.

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发作性共济失调2型(EA2)伴间期肌无力和局灶性肌张力障碍。

情景性共济失调1型和2型(EA1和EA2)是描述最充分的情景性共济失调。它们是常染色体显性遗传的早发性疾病，以小脑功能障碍发作为特征。EA1的临床特征是短暂发作性共济失调伴间期肌无力，而EA2的特征是持续时间较长的复发性共济失调、言语不清和间期眼球震颤。我们报告了一例EA2伴有间期局灶性肌张力障碍和间期肌无力的患者，这是迄今为止尚未报道的与EA2相关的间期特征。该患者在CACNA1A基因中携带一种先前描述的杂合致病性新生移码变异，从而确定了EA2的诊断。她在13岁时出现症状，从48岁开始出现间期肌无力和局灶性肌张力障碍，如补充影片S1所示。我们得出结论，间期肌无力和局灶性肌张力障碍可能是由EA2的小脑病理生理引起的与EA2相关的间期特征。低剂量乙酰唑胺治疗共济失调发作成功，但间期特征对乙酰唑胺无反应。

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

Cold Spring Harbor Molecular Case Studies MEDICINE, RESEARCH & EXPERIMENTAL-

CiteScore

3.20

自引率

0.00%

发文量

期刊介绍： Cold Spring Harbor Molecular Case Studies is an open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present genomic and molecular analyses of individuals or cohorts alongside their clinical presentations and phenotypic information. The journal''s purpose is to rapidly share insights into disease development and treatment gained by application of genomics, proteomics, metabolomics, biomarker analysis, and other approaches. The journal covers the fields of cancer, complex diseases, monogenic disorders, neurological conditions, orphan diseases, infectious disease, gene therapy, and pharmacogenomics. It has a rapid peer-review process that is based on technical evaluation of the analyses performed, not the novelty of findings, and offers a swift, clear path to publication. The journal publishes: Research Reports presenting detailed case studies of individuals and small cohorts, Research Articles describing more extensive work using larger cohorts and/or functional analyses, Rapid Communications presenting the discovery of a novel variant and/or novel phenotype associated with a known disease gene, Rapid Cancer Communications presenting the discovery of a novel variant or combination of variants in a cancer type, Variant Discrepancy Resolution describing efforts to resolve differences or update variant interpretations in ClinVar through case-level data sharing, Follow-up Reports linked to previous observations, Plus Review Articles, Editorials, and Position Statements on best practices for research in precision medicine.