From the MRC Centre for Neuromuscular Diseases (E.M., F.J., R.S.S., D.F., M.P., D.R.R., K.S., H.H., E.H., R.Q., J.L.H., M.G.H.), Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Neuromuscular Diseases Unit/ALS Clinic (C.N.), Kantonsspital St. Gallen, Switzerland; Neurogenetics Unit (R.S., H.H.) and Department of Neuropathology (J.L.H.), National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Human Genetics Laboratory Genetica (R.S.), Zurich, Switzerland; Genetics Department (R.M.), Viapath, Guy's Hospital, London; Wellcome Trust Centre for Mitochondrial Research (A.S.), University of Newcastle, Framlington Place, Newcastle Upon Tyne, UK; Institute of Pathology (E.H.), Belfast Health and Social Care Trust, Northern Ireland; Department of Neurology (J.P.), John Radcliffe Hospital, Oxford, UK; Departments of Biomedicine and Anesthesia (S.T.), Basel University Hospital, Switzerland; Department of Life Sciences (S.T.), Microbiology and Applied Pathology Section, University of Ferrara, Italy; Department of Paediatric Neurology (H.J.), Neuromuscular Service, Evelina Children's Hospital, St. Thomas' Hospital; and Department of Basic and Clinical Neuroscience (H.J.), Institute of Psychiatry, Psychology and Neuroscience, and Randall Division of Cell and Molecular Biophysics (H.J.), Muscle Signalling Section, King's College, London, UK.
Neurology. 2018 Jan 30;90(5):e412-e418. doi: 10.1212/WNL.0000000000004894. Epub 2018 Jan 3.
To characterize the phenotype of patients with symptoms of periodic paralysis (PP) and ryanodine receptor () gene mutations.
Cases with a possible diagnosis of PP but additional clinicopathologic findings previously associated with related disorders were referred for a tertiary neuromuscular clinical assessment in which they underwent detailed clinical evaluation, including neurophysiologic assessment, muscle biopsy, and muscle MRI. Genetic analysis with next-generation sequencing and/or targeted Sanger sequencing was performed.
Three cases with episodic muscle paralysis or weakness and additional findings compatible with a -related myopathy were identified. The McManis test, used in the diagnosis of PP, was positive in 2 of 3 cases. Genetic analysis of known PP genes was negative. analysis confirmed likely pathogenic variants in all 3 cases.
mutations can cause late-onset atypical PP both with and without associated myopathy. Myalgia and cramps are prominent features. The McManis test may be a useful diagnostic tool to indicate -associated PP. We propose that clinicopathologic features suggestive of -related disorders should be sought in genetically undefined PP cases and that gene testing be considered in those in whom mutations in , and have already been excluded.
描述周期性麻痹（PP）症状和兰尼碱受体（）基因突变患者的表型。
将可能诊断为 PP 但具有先前与相关疾病相关的附加临床病理发现的病例转介到三级神经肌肉临床评估，在那里他们接受了详细的临床评估，包括神经生理学评估、肌肉活检和肌肉 MRI。进行了下一代测序和/或靶向 Sanger 测序的基因分析。
确定了 3 例具有间歇性肌肉麻痹或无力和其他与相关肌病相容的发现的病例。在 3 例中，McManis 测试（用于诊断 PP）阳性。已知 PP 基因的基因分析为阴性。分析证实了所有 3 例的可能致病性变异。
突变可导致迟发性非典型 PP，伴或不伴相关肌病。肌痛和痉挛是突出的特征。McManis 测试可能是一种有用的诊断工具，可用于指示与相关的 PP。我们建议在基因定义不明的 PP 病例中寻找提示与相关疾病的临床病理特征，并考虑在已经排除、和突变的情况下进行基因检测。
Zotero 插件