{"title":"双倍拷贝 RFC1 重复扩增患者周围神经病变的电生理特征","authors":"Calezis Claudia, Bonello‐Palot Nathalie, Verschueren Annie, Azulay Jean‐Philippe, Fortanier Etienne, Grapperon Aude‐Marie, Kouton Ludivine, Gallard Julien, Salort‐Campana Emmanuelle, Attarian Shahram, Delmont Emilien","doi":"10.1002/mus.28257","DOIUrl":null,"url":null,"abstract":"Introduction/AimsCerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is caused by <jats:italic>RFC1</jats:italic> expansions. Sensory neuronopathy, polyneuropathy, and involvement of motor, autonomic, and cranial nerves have all been described with <jats:italic>RFC1</jats:italic> expansions. We aimed to describe the electrodiagnostic features of patients with <jats:italic>RFC1</jats:italic> expansions through multimodal electrophysiological investigations.MethodsThirty‐five patients, with a median age of 70 years, and pathologic biallelic repeat expansions in the <jats:italic>RFC1</jats:italic> gene, were tested for motor and sensory nerve conduction, flexor carpi radialis (FCR) and soleus H‐reflexes, blink reflex, electrochemical skin conductance, sympathetic skin response (SSR), and heart rate variability with deep breathing (HRV).ResultsOnly 16 patients (46%) exhibited the full clinical CANVAS spectrum. Distal motor amplitudes were normal in 30 patients and reduced in the legs of five patients. Distal sensory amplitudes were bilaterally reduced in a non‐length dependent manner in 30 patients. Conduction velocities were normal. Soleus H‐reflexes were abnormal in 19/20 patients of whom seven had preserved Achilles reflexes. FCR H‐reflexes were absent or decreased in amplitude in 13/14 patients. Blink reflex was abnormal in 4/19 patients: R1 latencies for two patients and R2 latencies for two others. Fourteen out of 31 patients (45%) had abnormal results in at least one autonomic nervous system test, either for ESC (12/31), SSR (5/14), or HRV (6/19).DiscussionLess than half of the patients with <jats:italic>RFC1</jats:italic> expansions exhibited the full clinical CANVAS spectrum, but nearly all exhibited typical sensory neuronopathy and abnormal H‐reflexes. Involvement of small nerve fibers and brainstem neurons was less common.","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":null,"pages":null},"PeriodicalIF":2.8000,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Electrophysiological features of the peripheral neuropathy in patients with pathologic biallelic RFC1 repeat expansions\",\"authors\":\"Calezis Claudia, Bonello‐Palot Nathalie, Verschueren Annie, Azulay Jean‐Philippe, Fortanier Etienne, Grapperon Aude‐Marie, Kouton Ludivine, Gallard Julien, Salort‐Campana Emmanuelle, Attarian Shahram, Delmont Emilien\",\"doi\":\"10.1002/mus.28257\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Introduction/AimsCerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is caused by <jats:italic>RFC1</jats:italic> expansions. Sensory neuronopathy, polyneuropathy, and involvement of motor, autonomic, and cranial nerves have all been described with <jats:italic>RFC1</jats:italic> expansions. We aimed to describe the electrodiagnostic features of patients with <jats:italic>RFC1</jats:italic> expansions through multimodal electrophysiological investigations.MethodsThirty‐five patients, with a median age of 70 years, and pathologic biallelic repeat expansions in the <jats:italic>RFC1</jats:italic> gene, were tested for motor and sensory nerve conduction, flexor carpi radialis (FCR) and soleus H‐reflexes, blink reflex, electrochemical skin conductance, sympathetic skin response (SSR), and heart rate variability with deep breathing (HRV).ResultsOnly 16 patients (46%) exhibited the full clinical CANVAS spectrum. Distal motor amplitudes were normal in 30 patients and reduced in the legs of five patients. Distal sensory amplitudes were bilaterally reduced in a non‐length dependent manner in 30 patients. Conduction velocities were normal. Soleus H‐reflexes were abnormal in 19/20 patients of whom seven had preserved Achilles reflexes. FCR H‐reflexes were absent or decreased in amplitude in 13/14 patients. Blink reflex was abnormal in 4/19 patients: R1 latencies for two patients and R2 latencies for two others. Fourteen out of 31 patients (45%) had abnormal results in at least one autonomic nervous system test, either for ESC (12/31), SSR (5/14), or HRV (6/19).DiscussionLess than half of the patients with <jats:italic>RFC1</jats:italic> expansions exhibited the full clinical CANVAS spectrum, but nearly all exhibited typical sensory neuronopathy and abnormal H‐reflexes. Involvement of small nerve fibers and brainstem neurons was less common.\",\"PeriodicalId\":18968,\"journal\":{\"name\":\"Muscle & Nerve\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.8000,\"publicationDate\":\"2024-09-17\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Muscle & Nerve\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/mus.28257\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Muscle & Nerve","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/mus.28257","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Electrophysiological features of the peripheral neuropathy in patients with pathologic biallelic RFC1 repeat expansions
Introduction/AimsCerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is caused by RFC1 expansions. Sensory neuronopathy, polyneuropathy, and involvement of motor, autonomic, and cranial nerves have all been described with RFC1 expansions. We aimed to describe the electrodiagnostic features of patients with RFC1 expansions through multimodal electrophysiological investigations.MethodsThirty‐five patients, with a median age of 70 years, and pathologic biallelic repeat expansions in the RFC1 gene, were tested for motor and sensory nerve conduction, flexor carpi radialis (FCR) and soleus H‐reflexes, blink reflex, electrochemical skin conductance, sympathetic skin response (SSR), and heart rate variability with deep breathing (HRV).ResultsOnly 16 patients (46%) exhibited the full clinical CANVAS spectrum. Distal motor amplitudes were normal in 30 patients and reduced in the legs of five patients. Distal sensory amplitudes were bilaterally reduced in a non‐length dependent manner in 30 patients. Conduction velocities were normal. Soleus H‐reflexes were abnormal in 19/20 patients of whom seven had preserved Achilles reflexes. FCR H‐reflexes were absent or decreased in amplitude in 13/14 patients. Blink reflex was abnormal in 4/19 patients: R1 latencies for two patients and R2 latencies for two others. Fourteen out of 31 patients (45%) had abnormal results in at least one autonomic nervous system test, either for ESC (12/31), SSR (5/14), or HRV (6/19).DiscussionLess than half of the patients with RFC1 expansions exhibited the full clinical CANVAS spectrum, but nearly all exhibited typical sensory neuronopathy and abnormal H‐reflexes. Involvement of small nerve fibers and brainstem neurons was less common.
期刊介绍:
Muscle & Nerve is an international and interdisciplinary publication of original contributions, in both health and disease, concerning studies of the muscle, the neuromuscular junction, the peripheral motor, sensory and autonomic neurons, and the central nervous system where the behavior of the peripheral nervous system is clarified. Appearing monthly, Muscle & Nerve publishes clinical studies and clinically relevant research reports in the fields of anatomy, biochemistry, cell biology, electrophysiology and electrodiagnosis, epidemiology, genetics, immunology, pathology, pharmacology, physiology, toxicology, and virology. The Journal welcomes articles and reports on basic clinical electrophysiology and electrodiagnosis. We expedite some papers dealing with timely topics to keep up with the fast-moving pace of science, based on the referees'' recommendation.