Parkinsonian Disorders

帕金森病
  • 文章类型: Case Reports
    帕金森综合征-高热综合征(PHS)是一种罕见的,帕金森病(PD)的致命并发症,表现在突然停止或减少抗帕金森病药物治疗的患者。据我们所知,这是在接受全身麻醉的患者中发生的PHS病例的首例报告.在PD患者的围手术期,对于麻醉医师来说,预防PHS并对患者进行监测,以便在发生PHS时能够早期发现并迅速作出反应是非常重要的.
    Parkinsonism-hyperpyrexia syndrome (PHS) is a rare, fatal complication of Parkinson\'s disease (PD) that manifests in patients who abruptly discontinue or reduce their antiParkinsonian medication. To the best of our knowledge, this is the first report of a PHS case occurring in a patient undergoing general anesthesia. In the perioperative period of PD patients, it is important for anesthesiologists to prevent PHS as well as monitor patients to enable early detection and prompt response when it occurs.
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  • 文章类型: Case Reports
    曲唑酮是一种被批准用于治疗重度抑郁症的抗抑郁药,并且由于其镇静作用也被用于治疗失眠。在少数情况下,曲唑酮与帕金森病有关。在这里,我们描述了短暂暴露于中等剂量曲唑酮后的帕金森病病例。
    描述一例曲唑酮诱发的帕金森病患者,在排除其他常见和严重原因后怀疑诊断。
    曲唑酮致帕金森病1例报告.
    一名有睡眠问题的58岁男性在睡前每天服用50毫克曲唑酮。一周后,受试者在没有医疗建议的情况下将剂量加倍。曲唑酮治疗14天后,他开始感到上肢活动困难和反复跌倒。神经影像学,电诊断研究,实验室考试并不引人注目。曲唑酮停产了,病人完全康复了.值得注意的是,曲唑酮再激发后,患者出现运动症状复发.
    我们的病例显示,在短期摄入治疗失眠的中等剂量曲唑酮后,可逆转诱发帕金森病。曲唑酮停药后,患者完全康复。值得注意的是,再次使用曲唑酮后症状复发.
    UNASSIGNED: Trazodone is an antidepressant agent approved for treating major depressive disorders and is also prescribed for insomnia due to its sedative effect. In a few cases, trazodone was associated with parkinsonism. Herein, we describe a case of parkinsonism after a brief exposure to a moderate dose of trazodone.
    UNASSIGNED: To describe a case of a patient with trazodone-induced parkinsonism in which the diagnosis was suspected after the exclusion of other common and serious causes.
    UNASSIGNED: A case report of trazodone-induced parkinsonism.
    UNASSIGNED: A 58-year-old male with sleeping problems was prescribed trazodone 50 mg daily at bedtime. The subject doubled the dosage without medical advice a week later. After 14 days of trazodone treatment, he started to experience difficulty in moving his upper limbs and recurrent falling. Neuroimaging, electrodiagnostic studies, and laboratory exams were unremarkable. Trazodone was discontinued, and the patient fully recovered. Noteworthy, the patient developed a recurrence of the motor symptoms with trazodone-rechallenge.
    UNASSIGNED: Our case showed reversibly induced parkinsonism after a short intake of a moderate dose of trazodone which was prescribed for insomnia. The patient had a complete recovery after trazodone withdrawal. Noteworthy, the symptoms recurred upon trazodone-rechallenge.
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  • 文章类型: Systematic Review
    亚急性硬化性全脑炎(SSPE)通常表现为周期性肌阵挛性;然而,一系列运动障碍,包括肌张力障碍,舞蹈病,震颤,和帕金森病也被描述过。这篇综述旨在评估SSPE中运动障碍的一系列,将它们与神经影像学检查结果相关联,疾病阶段,和患者结果。
    对已发表的病例报告和病例系列进行了全面审查,研究对象是表现出周期性肌阵挛性以外的运动障碍的SSPE患者。遵循PRISMA准则,并且该方案已在PROSPERO注册(2023CRD42023434650)。对多个数据库的全面搜索产生了37份报告,详细介绍了39例患者。Dyken的标准用于SSPE诊断,和国际运动障碍协会的定义被应用于运动障碍的分类。
    大多数患者是男性,平均年龄13.8岁。大约,80%的人缺乏可靠的疫苗接种史,39%曾感染过麻疹。肌张力障碍是最常见的运动障碍(49%),其次是帕金森病和舞蹈症。在64%的病例中发现疾病进展迅速,72%的疾病持续时间≤6个月。神经影像学显示T2/FLAIRMR高强度,主要是脑室周围,26%影响基底神经节/丘脑。脑活检显示炎症和神经退行性变化。超过一半的患者(56%)达到了运动静音状态或死亡。
    SSPE与多种运动障碍有关,主要是运动过度。肌张力障碍的患病率提示基底神经节功能障碍。
    UNASSIGNED: Subacute Sclerosing Panencephalitis (SSPE) typically presents with periodic myoclonus; however, a spectrum of movement disorders including dystonia, chorea, tremor, and parkinsonism have also been described. This review aims to evaluate the array of movement disorders in SSPE, correlating them with neuroimaging findings, disease stages, and patient outcomes.
    UNASSIGNED: A comprehensive review of published case reports and case series was conducted on patients with SSPE exhibiting movement disorders other than periodic myoclonus. PRISMA guidelines were followed, and the protocol was registered with PROSPERO (2023 CRD42023434650). A comprehensive search of multiple databases yielded 37 reports detailing 39 patients. Dyken\'s criteria were used for SSPE diagnosis, and the International Movement Disorders Society definitions were applied to categorize movement disorders.
    UNASSIGNED: The majority of patients were male, with an average age of 13.8 years. Approximately, 80% lacked a reliable vaccination history, and 39% had prior measles infections. Dystonia was the most common movement disorder (49%), followed by parkinsonism and choreoathetosis. Rapid disease progression was noted in 64% of cases, with a disease duration of ≤6 months in 72%. Neuroimaging showed T2/FLAIR MR hyperintensities, primarily periventricular, with 26% affecting the basal ganglia/thalamus. Brain biopsies revealed inflammatory and neurodegenerative changes. Over half of the patients (56%) reached an akinetic mute state or died.
    UNASSIGNED: SSPE is associated with diverse movement disorders, predominantly hyperkinetic. The prevalence of dystonia suggests basal ganglia dysfunction.
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  • 文章类型: Case Reports
    早发性帕金森病的神经发育障碍具有多种遗传病因,可以模仿帕金森病。我们报告了一名患有智力障碍和左旋多巴反应性运动障碍的女性的临床评估和神经影像学研究。家族三重奏的全基因组测序鉴定了先证者中PPP2R5D的从头错义变体。
    Neurodevelopmental disorders with early-onset parkinsonism have diverse genetic aetiologies and can mimic Parkinson\'s disease. We report the clinical evaluation and neuroimaging studies of a woman with intellectual disability and levodopa-responsive akinetic rigid parkinsonism. Whole-genome sequencing of family trio identified a de novo missense variant in PPP2R5D in the proband.
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  • 文章类型: Journal Article
    脑性黄瘤病(CTX)是一种罕见的常染色体隐性遗传疾病,由CYP27A1基因中的双等位基因致病变异引起,导致胆留醇在眼睛中沉积,肌腱,导致白内障的软组织和神经系统,黄色瘤,和各种神经精神表现。我们研究的目的是描述临床,CTX患者的放射学和遗传学特征。
    这是根据经典的临床和放射学发现诊断为CTX的患者的回顾性图表回顾。现有的临床细节,和调查,包括成像,电生理学,病理和遗传数据,被记录在案。
    本研究招募了5名患者(4名男性)。演示时的中位年龄为32岁(范围:21-66岁)。行走困难是最常见的症状。所有病人都有白内障,肌腱黄色瘤,眼球运动异常,构音障碍,锥体的迹象,共济失调和步态异常。在三名患者中发现了肌张力障碍。每位患者均注意到pal震颤和帕金森病。在MRI大脑中,齿状的,和皮质脊髓束受累是最常见的影像学发现。在一名患者中发现了双侧肥大性橄榄变性,在两名患者中发现了热交叉bun征。三名患者接受了基因检测,所有患者都有致病变异,证实了诊断。
    CTX是一种罕见的可治疗疾病。除了通常的神经系统表现与痉挛共济失调,它可以在晚年出现帕金森病。影像学表现的典型模式有助于早期诊断,有助于治疗以预防疾病的神经系统后遗症。
    UNASSIGNED: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by bi-allelic pathogenic variants in CYP27A1 gene that results in the deposition of cholestanol in the eyes, tendons, soft tissues and nervous system leading to cataracts, xanthomas, and various neuropsychiatric manifestations. The aim of our study is to describe the clinical, radiological and genetic profile of patients with CTX.
    UNASSIGNED: This is a retrospective chart review of patients with CTX diagnosed based on classical clinical and radiological findings. The available clinical details, and investigations, including imaging, electrophysiological, pathological and genetic data, were documented.
    UNASSIGNED: Five patients (4 males) were recruited in the study. The median age at presentation was 32 years (range: 21-66 years). Walking difficulty was the most common symptom at presentation. All patients had cataracts, tendon xanthomas, eye movement abnormalities, dysarthria, pyramidal signs, ataxia and gait abnormality. Dystonia was noted in three patients. Palatal tremor and parkinsonism were noted in one patient each. In MRI brain, dentate, and corticospinal tract involvement were the most frequent imaging findings. Bilateral hypertrophic olivary degeneration was noted in one patient and hot cross bun sign in two. Three patients underwent genetic testing and all had pathogenic variants confirming the diagnosis.
    UNASSIGNED: CTX is a rare treatable disorder. Apart from the usual neurological presentation with spastic-ataxia, it can present at a later age with parkinsonism. Typical patterns of imaging findings are helpful in early diagnosis which aids in the treatment to prevent the neurological sequelae of the disease.
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  • 文章类型: Journal Article
    帕金森病-肌张力障碍-2PKDYS2是一种常染色体隐性遗传疾病,由SLC18A2中的致病性双等位基因变体引起,该变体编码囊泡单胺转运蛋白(VMAT2)。PKDYS2是一种可治疗的神经递质疾病,随着基因组技术的进步,这种疾病的诊断率显着提高。我们的报告强调了一个病例的新病理变异和MRI脑部的新发现,由背侧脑干和脑桥的正常对称信号强度组成,它证实了基因检测在评估发育迟缓儿童中的重要性,影响临床决策以提高患者预后。
    Parkinsonism-dystonia-2 PKDYS2 is an autosomal-recessive disorder, caused by pathogenic biallelic variants in SLC18A2 which encodes the vesicular monoamine transporter (VMAT2) protein. PKDYS2 is a treatable neurotransmitter disease, and the rate of diagnosis of this disorder has increased significantly with the advance of genomic technologies. Our report highlights a novel pathologic variant in one case and a novel finding on MRI Brain, consisting of a normal symmetrical signal intensity in the dorsal brainstem and pons, and it substantiates the significance of genetic testing in the evaluation of children with developmental delays, which influences clinical decisions to enhance patient outcomes.
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  • 文章类型: Review
    背景:硬脑膜动静脉瘘(DAVFs)是罕见的脑动静脉吻合异常。对于帕金森病和痴呆的DAVFs并不常见,所以很容易误诊。神经影像学检查显示多灶性DAVFs与静脉血栓及白质改变有关,提示静脉性高血压脑病引起的脑循环障碍导致患者痴呆。数字减影血管造影证实了DAVFs的诊断和后续治疗。
    方法:我们报告2例,一种由双侧白质病变引起,另一种由双侧丘脑病变引起。他们的症状都表现为进行性痴呆和帕金森病。
    方法:通过数字减影血管造影诊断为硬脑膜动静脉瘘。
    结果:首例患者出现进行性认知障碍,6个月后,病人卧床不起,失禁,和严重的认知功能。第二名患者出院3个月后卧床不起,死于吸入性肺炎。
    结论:在DAVF患者中很少有关于进行性痴呆和帕金森病的报道,神经科医师应该保持警惕,避免误诊DAVF。
    BACKGROUND: Dural arteriovenous fistulas (DAVFs) are rare cerebral abnormal arteriovenous anastomoses. It is uncommon for DAVFs with parkinsonism and dementia, so it is easily misdiagnosed. Neuroimaging examinations show that multifocal DAVFs are related to venous thrombosis and white matter changes, suggesting that cerebral circulatory disorders caused by venous hypertensive encephalopathy lead to dementia in patients. Digital subtraction angiography confirmed the diagnosis and subsequent treatment of DAVFs.
    METHODS: We report 2 cases, one caused by bilateral white matter lesions and the other caused by bilateral thalamus lesions. Their symptoms are all manifested as progressive dementia and parkinsonism.
    METHODS: They were diagnosed with dural arteriovenous fistulas by digital subtraction angiography.
    RESULTS: The first patient developed progressive cognitive impairment, 6 months later, the patient developed bedridden, incontinence, and severe cognitive function.The second patient became increasingly bedridden 3 months after discharge and died of aspiration pneumonia.
    CONCLUSIONS: There are few reports of progressive dementia and parkinsonism in DAVF patients, and neurologists should be vigilant to avoid misdiagnosing DAVF.
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  • 文章类型: Case Reports
    暂无摘要。
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  • 文章类型: Case Reports
    目的:特发性正常压力脑积水(iNPH)是一种潜在的可逆性综合征,其特征是脑室增宽。帕金森病是iNPH经常被忽视的临床特征。Mostile等人。(2022)认为,诊断iNPH“三合会”应重新考虑为“四合会”,包括帕金森病。这个案例将讨论iNPH表现为帕金森病。患者为一名81岁男性,有iNPH伴Hakim三联征病史。他的病史包括高脂血症,高血压,深静脉血栓形成,良性前列腺增生,全膝关节置换术,慢性抑郁症。表现出的担忧是持续的认知和步态障碍。
    方法:患者在一家急性住院康复医院接受物理医师的转诊,以评估其认知功能并协助制定出院计划。对患者进行神经心理学评估,以阐明其认知表现的病因。
    结果:患者的认知状况在注意区域受损,执行功能,处理速度,视觉感知,并显示了皮质下的记忆特征.患者在口腔阅读区域有完整的功能,命名,和工作记忆。运动检查有明显的失用症,特定任务的震颤,和micrographia.
    结论:本病例报告为iNPH的常见表现提供了附加的发现,包括伴有精神病和医学混杂因素的帕金森病,强调需要进一步研究分流术后iNPH的神经心理学特征。它还强调了接受帕金森病作为iNPH常见表现之一的必要性。在近70%的iNPH病例中已经报道了运动障碍(Krauss等人,1997),运动迟缓和姿势不稳定是帕金森病的主要特征。不对称和静息性震颤被认为是罕见的(Molde等人。,2017)。
    OBJECTIVE: Idiopathic normal pressure hydrocephalous (iNPH) is a potentially reversible syndrome characterized by ventriculomegaly. Parkinsonism is an often-overlooked clinical feature of iNPH. Mostile et al. (2022) argued that the diagnostic iNPH \"triad\" should be reconsidered as a \"tetrad\" including parkinsonism. This case will discuss iNPH presenting with parkinsonism. Patient is an 81-year-old male with a history of iNPH with Hakim\'s triad. His medical history includes hyperlipidemia, hypertension, deep vein thrombosis, benign prostatic hyperplasia, total knee replacement, and chronic depression. Presenting concerns were continued cognitive and gait impairments.
    METHODS: Patient was referred from his physiatrist for evaluation of his cognitive functioning and assistance with discharge planning in an acute inpatient rehabilitation hospital. Patient was neuropsychologically evaluated to clarify the etiology of his cognitive presentation.
    RESULTS: Patient\'s cognitive profile was impaired in areas of attention, executive functioning, processing speed, visuoperception, and displayed a subcortical memory profile. Patient had intact functioning in areas of oral reading, naming, and working memory. Motor examination was evident for apraxia, task-specific tremor, and micrographia.
    CONCLUSIONS: This case report provides additive findings for common presentation of iNPH including parkinsonism presenting with comorbid psychiatric and medical confounders, highlighting the need for further research on neuropsychological profile of iNPH post shunt procedure. It also accentuates the need to accept parkinsonism as one of the common presentations of iNPH. Akinesia has been reported in nearly 70% of iNPH cases (Krauss et al, 1997), with bradykinesia and postural instability being the main parkinsonian features. Asymmetry and resting tremor were seen to be uncommon (Molde et al., 2017).
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  • 文章类型: Case Reports
    背景:诊断原发性侧索硬化症的标准,Pringle标准,在确认诊断之前,需要三年的纯上运动神经元症状表现。由于其时间段和症状性展览的限制性范围,此经典标准有时会受到质疑。
    方法:本病例报告将回顾一名57岁的白种人女性,她表现出锥体束和锥体束外特征,提示非常罕见的原发性侧索硬化症和帕金森病。我们将描述患者经历的上运动神经元体征和惊人的帕金森病症状的混合物,以及导致她初步诊断的全面诊断检查。这个病例的细节将被用来探索原发性侧索硬化症的诊断标准,以及通过类似帕金森病的条件的差异工作。
    结论:目前诊断原发性侧索硬化症的标准可能不包括患有该疾病的患者,这是一个正在进行的研究领域。包括其他神经退行性疾病在内的彻底鉴别是需要考虑的,需要长期随访。
    BACKGROUND: The standard of diagnosing primary lateral sclerosis, the Pringle criteria, requires three years of purely upper motor neuron symptom presentation before confirming diagnosis. This classic standard has been questioned on occasion due to its restrictive range of both time period and symptomatic exhibition.
    METHODS: This case report will review a 57-year-old Caucasian female who presented with pyramidal and extrapyramidal features suggestive of the exceedingly rare disease primary lateral sclerosis plus parkinsonism. We will describe the mixture of upper motor neuron signs and striking parkinsonian symptoms experienced by the patient, as well as the full diagnostic workup leading to her preliminary diagnosis. The details of this case will then be utilized to explore the diagnostic criteria of primary lateral sclerosis, as well as to work through the differential of conditions resembling Parkinson\'s disease.
    CONCLUSIONS: The current criteria to diagnose primary lateral sclerosis may be excluding patients with the disease and is an ongoing area of investigation. A thorough differential including other neurodegenerative conditions is necessary to consider and requires long-term follow-up.
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