Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Symptomatic myoclonus syndromes can be caused by a broad range of etiological factors. We report the case of a 40-year-old woman who showed spontaneous and continuous myoclonus with predominance distally and in the arms as the only neurological symptom. CSF evaluation revealed acute neurosyphilis. Six months after antibiotic treatment, the movement disorder had disappeared.
 ...
PMID:[Generalized myoclonus as the only symptom of neurosyphilis]. 944 Dec 59

An 18-year-old female had common cold and insomnia in early March 1987. Later, abnormal speech and behavior, emotional incontinence, anorexia and consciousness disturbance appeared. On March 19, she was admitted to our hospital in semi-comatose state. Myoclonus-like movement on hands was observed, and epileptic attacks with tonic and clonic convulsions occasionally occurred. There were no neurological findings that suspected cerebral focal lesions. The respiration was assisted through tracheal intubation. Laboratory examinations showed inflammatory reactions (CRP+2, WBC 10,600) and transient high levels serum CK (6,215 IU). As she had bradycardia (30-40/min) with complete AV block on ECG, the pacemaker was implanted. The complication of myocarditis was suspected. EEG showed bilateral slow waves (3-6Hz), dominantly in frontal areas. Brain CT and CSF examinations were normal. After the combined administration of ara-A, dexamethasone and anti-convulsant, the consciousness level was recovered within a month. The serum antibody against coxsackie virus B4 alone was significantly increased. We concluded that coxsackie virus B4 caused acute encephalitis with mental symptoms and myocarditis with AV block. Recently, cytomegalovirus was reported to be the causative virus in a young female with non-HSV encephalitis who showed mental symptoms with good prognosis, but coxsackie virus B4 should also be considered as one of the causative viruses.
 ...
PMID:[Coxsackie virus B4 encephalitis in a young female who developed mental symptoms, and consciousness disturbance, and completely recovered]. 959 14

If gallamine or d-tubocurarine gains access to the central nervous system it produces a myoclonus, a synchronized jerking of many skeletal muscles. Each jerk is accompanied by a slow wave in the inferior olive. The jerking continues for 24 h or more after the gallamine or d-tubocurarine can no longer be detected in the CSF. We report here that a novel substance appears in the CSF and persists for a long period of time, possibly as long as the twitching. This substance is not corticotrophin-releasing factor (CRF) nor does CRF or harmaline (a substance causing a tremor by an action on the inferior olive) lead to the appearance of the novel substance. At present the nature of this substance is not known.
 ...
PMID:A novel substance associated with gallamine-induced myoclonus. 963 27

We report a patient with familial myoclonus showing an extremely benign clinical course. The patient was a 70-year-old woman, who first noticed shaking of hands at age of 25. The symptom did not worsen for more than 40 years. She visited our hospital at the age of 70 because of disturbance in chores because of worsening of her hand shaking in the past one year. A family history showed that 4 members had similar symptoms and that the two were afflicted with fits of loss of consciousness. On neurologic examination, rhythmic myoclonic jerks were noted in all the extremities, more in the upper limbs, both at rest and during action. Tandem gait was mildly disturbed. The remainings of neurologic examination were normal. SEP and jerk-locked back averaging provided evidence of cortical myoclonus. EEG showed multifocal polyspike discharges. Gene analysis for DRPLA, pyruvate and lactate levels in serum and the cerebrospinal fluid, serum amino acid levels, and CSF HVA and 5-HIAA levels were all normal. No brain atrophy was noted in cranial MRI. Myoclonus was markedly reduced after administration of clonazepam. The clinical features and electrophysiological data of our patient are consistent with the clinical diagnosis of familial essential myoclonus and epilepsy/benign adult familial myoclonic epilepsy.
 ...
PMID:[A case of familial myoclonus showing extremely benign clinical course]. 980 89

In a 64-year old woman with progressive visual impairment for 4 weeks, probable Creutzfeld-Jakob disease without myoclonus was diagnosed after rapidly progressive mental deterioration had also developed, and CSF and EEG showed characteristic findings. Pattern-reversal and flash visually-evoked potentials, recorded 5, 6, 7 and 8 weeks after onset, showed a maximum P100 latency of 210 ms, 8 weeks after onset, and a maximum N75/P100 amplitude of 33.1 microV, 5 weeks after onset. While the P100 latency progressively increased, the N75/P100 amplitude continuously decreased after reaching its maximum. In the Heidenhain type of Creutzfeld-Jakob disease giant visually-evoked potentials may be recorded during the early stages of the disease, even in the absence of myoclonus. Visually-evoked potentials may prove useful in diagnosing Creutzfeld-Jakob disease with atypical initial presentation.
 ...
PMID:Giant visually-evoked potentials without myoclonus in the Heidenhain type of Creutzfeld-Jakob disease. 1050 Feb 66

A 68 year old woman with sporadic Creutzfeldt-Jakob disease is described, who neither showed characteristic EEG abnormalities nor a positive test of the neuronal protein 14-3-3 or neuron specific enolase (NSE) in CSF, despite a clinical presentation with ataxia of cerebellar type, rapidly progressive dementia, myoclonus, and marked hyperintense signal abnormalities in the deep cortical layers and the basal ganglia on T2 and diffusion weighted MRI. Moreover she showed atypical clinical features with a syndrome of inappropriate antidiuretic hormone (ADH) secretion (SIADH) and a peripheral sensorimotor polyneuropathy. Whether these disturbances are independent of Creutzfeldt-Jakob disease or a feature of it is discussed. It has recently been shown that in Creutzfeldt-Jakob disease different clinical and pathological phenotypes correlate with the polymorphism at codon 129 of the prion protein gene (PRNP) and the type of the protease resistant fragment that accumulates in the brain. According to the new classification at least six sporadic variants of Creutzfeldt-Jakob disease exist. The molecular genetic analysis showed heterozygosity of PRNP at codon 129 for methionine and valine and the presence of PrP(CJD) type 2 in the brain of this patient. As a new feature of changes on MRI, striking cortical changes of hyperintense signals are described in diffusion weighted as well as T2 weighted MRI that directly correlate with the histomorphological spongy degeneration of the brain in this region. In cases of rapidly progressive dementia, Creutzfeldt-Jakob disease always needs to be considered even if unusual features are present and current diagnostic criteria are not in favour of this disease.
 ...
PMID:Clinical range and MRI in Creutzfeldt-Jakob disease with heterozygosity at codon 129 and prion protein type 2. 1051 81

A 36-year-old Japanese woman was admitted to our hospital, because of facial palsy, ophthalmoplegia, cerebellar ataxia, and rhythmic myoclonus of the neck. About a few weeks before admission, she developed symptoms of common cold and general fatigue. Her laboratory data were unremarkable, and her CSF was normal. Serum levels of antibodies to gangliosides were within normal limits. Her MRIs of the brain and neck were normal. Both somatosensory evoked cortical potential study and auditory evoked brainstem response study were normal. She was diagnosed as postinfectious brainstem encephalitis, and the administration of corticosteroid was started. After the treatment, her symptoms improved. To our knowledge, it is rare to see myoclonus to the neck without palatal tremor in patients with brainstem encephalitis.
 ...
PMID:[Rhythmic involuntary movement of the neck in a patient with brainstem encephalitis]. 1065

A 58-year-old male presented with reflex myoclonus and stiffness of the left facial, tongue, shoulder, and lower limbs muscles. Muscle stiffness and gait progressively worsened, leading to frequent falls. Acoustic and cutaneous stimuli of head precipitated reflex myoclonus like head retraction. Cutaneous of lower extremities precipitated jerky myoclonus of bilateral lower extremities. CSF analysis were unremarkable. No anti GAD antibody or anti amphiphysin antibody was detected in the serum and CSF. On surface EMG the spasms initiated with 4-5 short burst discharges at intervals between 59 and 84 ms, followed by a tonic decrescendo activity up to 3 s. After diazepam treatment, stiffness and reflex myoclonus of lower extremities were disappeared and head retraction like reflex myoclonus was improved but remained. CT of the chest revealed a mediastinal tumor. Biopsy of the tumor revealed undifferential carcinoma. The patient further improved after the resection of the tumor. These findings suggest that this stiff-man syndrome may occur as an autoimmune paraneoplastic syndrome of CNS.
 ...
PMID:[A case of stiff-man syndrome with head retraction like reflex myoclonus and jerky myoclonus of bilateral lower extremities which responded well to removal of mediastinal carcinoma]. 1065 63

Since a report in 1996 of 10 cases of Creutzfeldt-Jakob disease (CJD) with onset in a younger than usual age, a pattern of the disease has emerged. This includes early neuropsychiatric features and sensory symptoms and neurological signs such as ataxia and involuntary movements later in the course of the disease. Three patients with varied clinical presentations and disease course seen at a single neurology unit are described. The first patient was characterised by cognitive and psychiatric symptoms together with neurological signs. The second patient presented with unusual behavioural disturbance and episodes of collapse. The third patient exhibited striking psychomotor retardation and had abnormal CSF and MRI findings. All patients succumbed in a state of akinetic mutism and myoclonus. All three patients had the methionine/methionine genotype at codon 129 of the PrP gene and in two of the three patients a tonsil biopsy was performed with positive results. These two patients also tested positive for the 14.3.3. protein in the CSF. Whereas late features of the disease seem very similar in all cases, the initial presentation was variable and underlines the uncertainty of the range of the clinical phenotype. Successful diagnosis demands a high index of clinical suspicion.
 ...
PMID:New variant Creutzfeldt-Jakob disease: three case reports from Leicestershire. 1067 25

Hashimoto's encephalopathy is a steroid-responsive, relapsing or progressive encephalopathy associated with Hashimoto's thyroiditis. Characteristic clinical features are confusion, seizures, alteration in conscious level, stroke-like episodes, myoclonus, and tremulousness. High CSF protein levels without pleocytosis and a diffusely abnormal EEG are typical findings. Brain CT and MRI and cerebral angiogram are usually normal. We present two case reports of Hashimoto's encephalopathy in 55- and 77-year-old patients who both responded well to steroid therapy, and review the literature.
 ...
PMID:[Hashimoto encephalopathy: steroid-sensitive encephalopathy in Hashimoto thyroiditis]. 1091 46


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>