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INHERITED NEUROPATHIES: CLINICAL OVERVIEW AND UPDATE

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单位: [1]Mayo Clin, Dept Neurol, Rochester, MN 55905 USA [2]Mayo Clin, Dept Med Genet, Rochester, MN 55905 USA [3]China Japan Friendship Hosp, Dept Neurol, Beijing, Peoples R China [4]Univ Iowa Hosp & Clin, Dept Neurol, Iowa City, IA 52242 USA
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关键词: ataxia neuropathy spinocerebellar cerebellum triplet repeats

摘要:
Inherited neuropathy is a group of common neurologic disorders with heterogeneous clinical presentations and genetic causes. Detailed neuromuscular evaluations, including nerve conduction studies, laboratory testing, and histopathologic examination, can assist in identification of the inherited component beyond family history. Genetic testing increasingly enables definitive diagnosis of specific inherited neuropathies. Diagnosis, however, is often complex, and neurologic disability may have both genetic and acquired components in individual patients. The decision of which genetic test to order or whether to order genetic tests is often complicated, and the strategies to maximize the value of testing are evolving. Apart from rare inherited metabolic neuropathies, treatment approaches remain largely supportive. We provide a clinical update of the various types of inherited neuropathies, their differential diagnoses, and distinguishing clinical features (where available). A framework is provided for clinical evaluations, including the inheritance assessment, electrophysiologic examinations, and specific genetic tests.

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出版当年[2012]版:
大类 | 3 区 医学
小类 | 3 区 临床神经病学 4 区 神经科学
最新[2025]版:
大类 | 3 区 医学
小类 | 3 区 临床神经病学 3 区 神经科学
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出版当年[2011]版:
Q2 CLINICAL NEUROLOGY Q3 NEUROSCIENCES
最新[2023]版:
Q2 CLINICAL NEUROLOGY Q2 NEUROSCIENCES

影响因子: 最新[2023版] 最新五年平均[2021-2025] 出版当年[2011版] 出版当年五年平均[2007-2011] 出版前一年[2010版] 出版后一年[2012版]

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第一作者单位: [1]Mayo Clin, Dept Neurol, Rochester, MN 55905 USA [2]Mayo Clin, Dept Med Genet, Rochester, MN 55905 USA [*1]Mayo Clin, Dept Neurol, 200 1st St SW, Rochester, MN 55905 USA
通讯作者:
通讯机构: [1]Mayo Clin, Dept Neurol, Rochester, MN 55905 USA [2]Mayo Clin, Dept Med Genet, Rochester, MN 55905 USA [*1]Mayo Clin, Dept Neurol, 200 1st St SW, Rochester, MN 55905 USA
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