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CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy

Journal of Genetics and Genomics 2024年第2期51卷 184-196页

作者： Yan Shi Chunyan Cao Yiheng Zeng Yuanliang Ding Long Chen Fuze Zheng Xuejiao Chen Fanggui Zhou Xiefeng Yang Jinjing Li Liuqing Xu Guorong Xu Minting Lin Hiroyuki Ishiura Shoji Tsuji Ning Wang Zhiqiang Wang Wan-Jin Chen Kang Yang Department of Neurology and Institute of Neurology of First Affiliated Hospital Institute of NeuroscienceFujian Key Laboratory of Molecular NeurologyFujian Medical UniversityFuzhouFujian 350005China Department of Neurology National Regional Medical CenterBinhai Campus of the First Affiliated HospitalFujian Medical UniversityFuzhouFujian 350212China The First Affiliated Hospital College of Clinical Medicine of Henan University of Science and TechnologyLuoyangHenan 471000China Department of Neurology Zhangzhou Municipal Hospital of Fujian Province and Zhangzhou Affiliated Hospital of Fujian Medical UniversityZhangzhouFujian 363000China Department of Neurology Jian'ou Municipal Hospital of Fujian ProvinceJian'ouFujian 353100China Department of Radiology First Affiliated Hospital of Fujian Medical UniversityFuzhouFujian 350005China Department of Neurology Graduate School of MedicineThe University of TokyoTokyo 113-8655Japan Department of Neurology Okayama University Graduate School of MedicineDentistry and Pharmaceutical SciencesOkayama 700-8558Japan Institute of Medical Genomics International University of Health and WelfareChiba 286-0048Japan

CGG repeat expansions in LOC642361/NUTM2B-AS1 have recently been identified as a cause of oculopharyngeal myopathy with leukoencephalopathy.However,since only three patients from a single family were reported,it remains unknown whether their clinicopathological features are typical for CGG repeat expansions in LOC642361/NUTM2B-AS1.Here,using repeat-primed-polymerase chain reaction and long-read sequencing,we identify 12 individuals from 3 unrelated families with CGG repeat expansions in LOC642361/NUTM2B-AS1,typically presenting with oculopharyngodistal myopathy.The CGG repeat expansions range from 161 to 669 repeat units.Most of the patients present with ptosis,restricted eye movements,dysphagia,dysarthria,and diffuse limb muscle weakness.Only one patient shows T2-weighted hyperintensity in the cerebellar white matter surrounding the deep cerebellar nuclei on brain magnetic resonance imaging.Muscle biopsies from three patients show a myopathic pattern and rimmed vacuoles.Analyses of muscle biopsies suggest that CGG repeat expansions in LOC642361/NUTM2B-AS1 may deleteriously affect aggrephagic capacity,suggesting that RNA toxicity and mitochondrial dysfunction may contribute to pathogenesis.Our study thus expands the phenotypic spectrum for the CGG repeat expansion of LOC642361/NUTM2B-AS1 and indicates that this genetic variant typically manifests as oculopharyngodistal myopathy with chronic myopathic changes with rimmed vacuoles and filamentous intranuclear inclusions in muscle fibers.

关键词： Oculopharyngeal myopathy with leukoencephalopathy Oculopharyngodistal myopathy CGG repeat expansion Rimmed vacuoles

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Stroke-like presentation of acute toxic leukoencephalopathy due to capecitabine treatment with extensive intramyelinic edema

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慢性疾病与转化医学:英文版 2023年第3期9卷 258-262页

作者： Julia Feige Fritz Klausner Johannes A.R.Pfaff Eugen Trinka Slaven Pikija Mahdi Safdarian Department of Neurology Neurocritical Care and NeurorehabilitationCentre of Cognitive NeuroscienceChristian Doppler University HospitalParacelsus Medical UniversitySalzburgMember of EpiCARESalzburgAustria Department of Neuroradiology Christian Doppler University HospitalParacelsus Medical UniversitySalzburgAustria Neuroscience Institute Christian‐Doppler University HospitalParacelsus Medical UniversityCentre for Cognitive NeuroscienceSalzburgAustria Institute of Public Health Medical Decision‐Making and HTAUMIT‐Private University for Health SciencesMedical Informatics and TechnologyHall in TyrolAustria

1|INTRODUCTION Capecitabine is an oral prodrug of 5-fluorouracil(5-FU),which is widely used for adjuvant and neoadjuvant chemotherapy of different solid tumors,particularly breast and colorectal cancers.1 Neurotoxicity of capecitabine has been consistently reported as capecitabine-induced toxic leukoencephalopathy,which includes bilateral lesions in the corpus callosum and corticospinal tract presenting as acute or delayed central nervous system toxicity.2 This side effect requires discontinuation of chemotherapy3;however,neurological symptoms due to capecitabine are reported to be usually reversible upon drug withdrawal.

关键词： capecitabine intramyelinic edema leukoencephalopathy stroke

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in a Chinese pedigree A case report using brain magnetic resonance imaging and biospy

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Neural Regeneration Research 2012年第3期7卷 224-228页

作者： Erhe Xu Huiqing Dong Milan Zhang Min Xu Department of Neurology Xuanwu Hospital Capital Medical University Beijing 100063 China

The present study enrolled a Chinese family that comprised 34 members and spanned three generations. Eight members were diagnosed with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, and disease diagnoses corresponded with autosomal incomplete dominance inheritance. The primary clinical manifestations included paralysis, dysarthria, and mild cognitive deficits. Magnetic resonance imaging revealed diffuse leukoencephalopathy with involvement of bilateral anterior temporal lobes, in particular the pons. In addition, multiple cerebral infarction was identified in the proband. Sural nerve biopsy findings of the proband revealed granular osmophilic material deposits in the extracellular matrix, which were adjacent to smooth muscle cells of dermal arterioles. Screening exons 2-4 for NOTCH 3 mutations by direct sequencing did not reveal any abnormalities.

关键词： cerebral autosomal dominant arteriopathy dysarthria granular osmophilic material leukoencephalopathy NOTCH 3 paresis subcortical infarcts

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Manifestation of leukoencephalopathy in a patient with advanced non-small cell lung cancer following treatment with gefitinib

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Chinese Medical Journal 2011年第22期124卷 3834-3837页

作者： HUANG Yi-sheng HUANG Biao WU Yi-long Gua-ngdong-LungJcancer Institute Guangdong General Hospital and Guangdong Academy of Medical Sciences Guangzhou Guangdong 510080 China

The present case is a patient with advanced non-smaU cell lung cancer （NSCLC） who developed leukoencephalopathy following radiotherapy and gefitinib treatments. There are rarely reports of such incidences because the median survival period of advanced NSCLC is only ten months. The features of leukoencephalopathy in this case were atypical for radiation leukoencephalopathy, so it was suspected that the ieukoencephalopathy was associated with gefitinib.

关键词： gefitinib leukoencephalopathy radiosensitizing non-small cell lung cancer

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CADASIL syndrome(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)presenting as psychosis

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General Psychiatry 2018年第6期31卷 148-149页

作者： Dheerendra Kumar Mishra Aman Kishore Vijay Niranjan Department of Psychiatry Shyam Shah Medical College RewaRewaMadhya Pradesh India Masik Aarogyashala Gwalior lndoreMadhya PradeshIndia Department of Psychiatry M.G.M.Medical College IndoreIndoreMadhya PradeshIndia

Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy(CADASIL) is the most common monogenic form of cerebral small-vessel disease characterised by recurrent strokes. Behavioural disturbance also presents in a significant proportion of subjects as neurotic spectrum disorders and psychotic features are rarely reported. In this case report, we highlight a 32-year-old man with CADASIL syndrome, who had overt psychotic symptoms with neurological signs later on.

关键词： CADASIL psychotic cerebral leukoencephalopathy

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Journal of Cancer Therapy 2011年第2期2卷 217-223页

作者： Sarah N. Cross Elena S. Ratner Dan A. Silasi Alessandro D. Santin Masoud Azodi Thomas J. Rutherford Peter E. Schwartz Department of Obstetrics Gynecology and Reproductive Sciences Yale University School of Medicine New Haven USA.

Background: Bevacizumab is increasingly being used in the treatment of gynecologic malignancies, but has significant side-effects including hypertension and reversible posterior leukoencephalopathy (RPLS), which must be recognized by the gynecologic oncologist. Methods: A 26-month institutional retrospective review of bevacizumab in the treatment of gynecologic malignancies. Patients were grouped according to whether they had bevacizumab-related hypertension (defined as at least a grade one hypertensive toxicity) or not. There were no differences in patient demographics between the groups. Risk factors for developing bevacizumab-related hypertension were assessed using t-tests, Wilcoxon rank sum test and Fisher’s exact test. Results: Our group has treated 45 patients with bevacizumab. Fifteen (33%) patients had a pre-existing diagnosis of hypertension, 12 (80%) of whom had at least one elevated blood pressure during treatment. The 30 (67%) patients who did not have a pre-existing diagnosis of hypertension still had a high incidence of bevacizumab-related elevated blood pressure (14, 47%). The majority of patients (26, 58%) had at least one therapy cycle complicated by hypertension. Patients who experienced bevacizumab-related hypertension were significantly more likely than not to have a history of hypertension (odds ratio of 4.6, 95% CI 1.1-19.6). There was a 4.4% incidence of reversible posterior leukoencephalopathy. Patients with age equal to or greater than 75 years, stage IV disease, and creatinine elevations greater than or equal to 1.4 mg/dL were significantly more likely to develop bevacizumab-related hypertension. Other factors such as numbers of prior chemotherapies, cycles of bevacizumab, BMI, cancer site, and histology were not significantly associated with bevacizumab-related hypertension. Conclusions: Hypertension is a problem for patients on bevacizumab whether or not they have a pre-existing diagnosis. However, those with a history of hypertension were significantly more likely to have bevacizumab

关键词： Ovarian Cancer Bevacizumab Hypertension Posterior Reversible leukoencephalopathy

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Heroin-Induced Toxic leukoencephalopathy

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Case Reports in Clinical Medicine 2017年第8期6卷 227-230页

作者： Robin van Steenhoven Giorgos Karas Poen Tan Henry Weinstein Department of Neurology OLVG Amsterdam The Netherlands

Toxic leukoencephalopathy is an important complication of heroin abuse and has mostly been described after inhaling heroin vapor, known as “chasing the dragon syndrome” or heroin inhalation leukoencephalopathy (HIL). We present a 51 year-old male patient with toxic leukoencephalopathy following intranasal administration of heroin.

关键词： Clinical Neurology Neuroradiology Toxicology Opiates Toxic leukoencephalopathy

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Cerebral Localization of Chronic Lymphocytic Leukemia Simulating Progressive Multifocal leukoencephalopathy: The Lessons from a Case

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Case Reports in Clinical Medicine 2020年第4期9卷 96-106页

作者： T. M. Sandouno S. Chebrek C. Tchonko G. Pichancourt L. Giovannetti H. Zerazhi Romain Appay H. Lepidi H. Bachir S. Hamaz H. B. Alaoui K. Serraj B. Slama Internal Medicine Department Mohammed VI University Hospital Center Mohammed I University Oujda Morocco Onco-hematology department Henri Duffaut Hospital Center Avignon France Infectiology Departement Henri Duffaut Hospital Center Avignon France Department of Pathological Anatomy and Neuropathology Timone University Hospital Center Marseille France

Background: Central neurological involvement is the most frequent extra hematological manifestation of chronic lymphocytic leukemia;it is multifactorial and rarely due to a cerebral localization of the disease. We report a case of cerebral localization of chronic lymphoid leukemia whose clinical and radiological aspects were very suggestive of progressive multifocal leukoencephalopathy. Case Presentation: A 65-year-old patient who was HIV-negative (human immunodeficiency virus), had consulted for bilateral axillary, cervical and inguinal lymphadenopathy associated with major asthenia and hyper lymphocytosis (lymphocyte count was 11 giga/l). Chronic lymphocyticleukemia with TP53 mutation was diagnosed and treatment with Ibrutinib 420 mg/day was initiated. After 2 months of treatment, the evolution was marked by the onset of neurological disorders whose clinical-radiological presentation and temporal evolution had led to the diagnosis of progressive multifocal leukoencephalopathy. In the absence of virological evidence in the cerebrospinal fluid analysis, a stereotactic biopsy of the brain lesions had been performed, making it possible to formally rule out this infectious hypothesis and to demonstrate cerebral invasion by tumour cells. Immuno-chemotherapy combining Rituximab-Cyclophosphamide-Doxorubicin-Vincristine-Prednisone-Ibrutinib (RCHOP-Ibrutinib) with intrathecal chemotherapy resulted in a very good clinical-radiological response. Conclusion: The appearance of neurological manifestations in the context of chronic lymphocytic leukemia must systematically lead to a search for a cerebral localization of the disease. In the absence of virological evidence in the cerebrospinal fluid, any suspicion of progressive multifocal leukoencephalopathy in this context should lead to the histological study of brain lesions.

关键词： Progressive Multifocal leukoencephalopathy Chronic Lymphocytic Leukemia John Cunningham Virus cerebral Localization Ibrutinib

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Unusual MR Feature Presenting Discrete Involvement of Pyramidal Tract in Progressive Multifocal leukoencephalopathy: A Case Report

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Open Journal of Medical Imaging 2012年第3期2卷 100-102页

作者： Maki Umino Masayuki Maeda Nobuyoshi Matsushima Ai Itoh Akira Taniguchi Hidekazu Tomimoto Department of Neurology Mie University School of Medicine Tsu Japan Department of Radiology Mie University School of Medicine Tsu Japan

Progressive multifocal leukoencephalopathy (PML) is a demyelinating disease caused by reactivation of JC virus in immunocompromised patients. To date, PML with discrete involvement of the pyramidal tract has been described in only two patients. This report describes an additional case with PML showing discrete involvement of the pyramidal tract on T2-weighted images and FLAIR images.

关键词： Progressive Multifocal leukoencephalopathy Pyramidal Tract MRI

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Toluene-induced leukoencephalopathy with characteristic magnetic resonance imaging findings

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Neuroimmunology and Neuroinflammation 2014年第1期1卷 92-94页

作者： Fan Zeng Heng Yang Hua-Dong Zhou Yan-Jiang Wang Department of Neurology and Center for Clinical Neuroscience Daping Hospital and Institute of Field SurgeryThird Military Medical UniversityChongqing 400042China

Toluene-induced leukoencephalopathy is a frequently seen medical condition worldwide;however the lack of specific clinical manifestations and laboratory tests makes it difficult to diagnose.Neuroimaging and medical history are often crucial to diagnosis of this disorder.In this report,a case is presented of a patient suffering from toluene-induced leukoencephalopathy with deteriorating cognition impairment and characteristic magnetic resonance imaging(MRI)findings,typified by a“sunflower-like”change in T2-weighted imaging.In addition,the pharmacokinetic properties of toluene are reviewed,as well as the clinical manifestations,typical MRI findings,neuropathology,possible mechanism,and treatment of toluene-induced leukoencephalopathy.

关键词： leukoencephalopathy neuroimaging occupational protection toluene

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