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

Corticobasal degeneration (CBD) is not rare disease, because in our clinic 13 patients were observed for the past 8 years, with ratio to those with Parkinson's disease being 1:18. Our clinical criteria of this disease consist of the combination of 1) limb-kinetic apraxia as cortical sign, 2) akinetic-rigid sign as extrapyramidal sign, 3) their marked asymmetry, and as additional findings, 4) the presence of grasp reflex, alien hand sign, reflex myoclonus, limb dystonia, and others, and 5) neuroimagings (MRI, SPECT) suggestive of asymmetric cortical lesions. There are reports indicating that clinical CBD was diagnosed as Pick's disease, progressive supranuclear palsy and Alzheimer's disease, pathologically. Therefore, more basic investigations, especially from molecular biology are necessary to discriminate these corticobasal complex disorders.
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PMID:[Cortico-basal degeneration]. 901 38

Opsoclonus myoclonus syndrome, one of the paraneoplastic neurological syndromes involving several neurological symptoms that result from "remote effects" of cancer, is a rare disease characterized by opsoclonus, cerebellar ataxia and myoclonus of the trunk and extremities. A 53-year-old man was admitted with dizziness and difficulty walking. Medical examinations led to a diagnosis of opsoclonus myoclonus syndrome. CT scans showed mediastinal and cervical lymphadenopathy, and a diagnosis of small cell lung cancer was made. Steroid therapy and chemotherapy (carboplatin + etoposide) produced significant improvement in the neurological symptoms.
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PMID:[Small cell lung cancer complicated by opsoclonus myoclonus syndrome]. 1999 3

Pediatric opsoclonus-myoclonus syndrome (OMS) is a rare disease, including eye movement disturbances, muscle jerks, ataxia and developmental disturbances as the main symptoms. In 50% of patients, OMS is associated with a neuroblastoma as a paraneoplastic neurological syndrome. Since autoantibodies have been detected in some patients and OMS patients respond to immunosuppression, an autoimmune etiology has been suspected in OMS. A variety of autoantibodies have been reported in association with OMS. In paraneoplastic OMS, some patients have anti-Hu antibodies, directed against a group of RNA-binding proteins expressed in neurons and tumor cells. Autoantibodies against alpha-enolase and KH-type splicing regulatory protein could also be demonstrated. However, these autoantibodies are not specific for OMS. By contrast, autoantibodies against surface epitopes of cerebellar granular cells and neuroblastoma cells have been demonstrated exclusively in OMS patients, and these autoantibodies have pathogenic effects on neuroblastoma cells. Taken together, OMS is associated with surface-binding autoantibodies with pathogenic effects, indicating a humoral immune-mediated process as the underlying cause for OMS.
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PMID:Identification of autoantigens in pediatric opsoclonus-myoclonus syndrome. 2047 44

Infantile neuronal ceroid lipofuscinosis (INCL; NCL1, Haltia-Santavuori disease) is caused by mutations in the CLN1/PPT gene which are associated with an early onset INCL phenotype. The most detailed descriptions of INCL have come from Finland and a few series have been reported from southern European countries. Clinical course and follow-up of six Spanish patients with INCL are reported with the aim of assessing the chronological evolution and severity of this disease. The age at disease onset ranged from 8 to 15 months. Delayed motor skills were the initial symptom when the disease began before 12 months of age, and ataxia was the first sign when the disease began later. Cognitive decline, which is described between 12 and 18 months of age, occurred from 16 to 20 months of age. In our series early stage is characterized by motor impairment, cognitive decline and autistic features. Visual failure may appear simultaneously with the neurological symptoms, leading quickly to blindness. As reported, psychomotor regression appeared between 2 and 3 years of age. Myoclonic jerks occurred after 24 months of age and epilepsy was the last symptom of the disease. We report two novel mutations in a patient without epilepsy to date and describe the features of two siblings homozygous for the V181M (c.541G>A) mutation, associated with the most severe INCL phenotype. The clinical evolution might be helpful to identify patients affected by this rare disease. Early diagnosis is essential in order to provide genetic counselling to affected families. Our series may contribute to the study of the genotype-phenotype INCL correlation in the Mediterranean countries.
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PMID:Infantile neuronal ceroid lipofuscinosis: follow-up on a Spanish series. 2238 3

Mutations of the intrinsic lysosomal membrane protein SCARB2 cause action myoclonus-renal failure syndrome (AMRF syndrome), a rare disease characterized by renal and neurological manifestations. In this study, examination of Cos7 cells transfected with SCARB2 cDNA derived from two patients with AMRF syndrome showed that the resultant protein was truncated and was not incorporated into vesicular structures, as occurred with full-length SCARB2 cDNA. Mutant SCARB2 protein failed to colocalize with lysosomes and was found in the endoplasmic reticulum or the cytosol indicating a loss of function. Cultured skin fibroblast and Epstein-Barr virus-transformed lymphoblastoid B cell lines (LCLs) were created from these two patients. Despite the loss of SCARB2 function, studies with lysosomal-associated membrane protein (LAMP) 1 and LAMP2 demonstrated normal lysosomal numbers in fibroblasts and LCLs. Immunofluorescence microscopy using anti-LAMP1 and anti-LAMP2 antibodies also showed normal lysosomal structures in fibroblasts. There was no change in the morphology of fibroblasts examined by electron microscopy compared with cells from unaffected individuals. By contrast, LCLs from individuals bearing SCARB2 mutations had large intracellular vesicles that resembled autophagosomes and contained heterogeneous cellular debris. Some of the autophagosomes were seen to be extruding cellular contents into the media. Furthermore, LCLs had elevated levels of microtubule-associated protein light chain 3-II, consistent with increased autophagy. These data demonstrate that SCARB2 mutations are associated with an inability to process autophagosomes in B lymphocytes, suggesting a novel function for SCARB2 in immune function.
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PMID:Abnormal Processing of Autophagosomes in Transformed B Lymphocytes from SCARB2-Deficient Subjects. 2351 16

Severe myoclonic epilepsy in infancy (SMEI) is a rare disease, characterized by febrile and afebrile, generalized and unilateral, clonic or tonic-clonic seizures that occur in the first year of life in an otherwise apparently normal infant. They are later associated with myoclonus, atypical absences, and partial seizures. Developmental delay becomes apparent within the second year of life and is followed by definite cognitive impairment and personality disorders of variable intensity. In the borderline form, children do not present with myoclonic symptoms but have the same general picture. SMEI is a channelopathy and the genetic studies have shown a mutation in the SCN1A gene in 70 to 80% of the patients, including the borderline forms. At present, there are no well-established correlations between genotype and phenotype. The electroencephalograms, often normal at the onset, display both generalized and focal anomalies, without a specific electroencephalographic pattern. As a rule, neuroimaging is normal. All seizure types are resistant to antiepileptic drugs and status epilepticus is frequent. Some drugs have been shown to aggravate the seizures and must be avoided. Two recent drugs have been proved to partially control the convulsive seizures and the status epilepticus. Therefore, it is crucial to diagnose this epilepsy soon after its onset in order to prescribe the most appropriate treatment.
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PMID:Dravet syndrome (severe myoclonic epilepsy in infancy). 2362 10

Sialidosis is a lysosomal storage disease caused by deficit of neuraminidase. It is an autosomal recessive disease, heterogeneous in its onset, presentation and prognosis. We report a case of a male patient with molecular and enzymatic confirmation of the diagnosis. Symptoms began at age 26 with reduced visual acuity, bilateral cherry-red spots and later myoclonus. A brother, now deceased, had the same confirmed disease. We describe the symptoms and clinical findings of the patient, as well review the current knowledge on the topic. With this report, we highlight the importance of a clinical history integrating all the patient's symptoms in order to achieve the diagnosis. In the presence of a cherry-red spot, a comprehensive study is mandatory. Despite being a rare disease, sialidosis carries a significant burden for its patients and its diagnosis should always be considered in the appropriate setting.
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PMID:Sialidosis type I: ophthalmological findings. 2532 82

Both severe thyrotoxicosis and hypothyroidism may affect brain function and cause a change in consciousness, as seen with a thyroid storm or myxedema coma. However, encephalopathy may also develop in patients with autoimmune thyroid diseases independent of actual thyroid function level, and this is known as Hashimoto's encephalopathy. Although most patients are found to have Hashimoto's thyroiditis, less frequently they have Graves' disease. Clinical manifestations include epilepsy, disturbance of consciousness, cognitive impairment, memory loss, myoclonus, hallucinations, stroke-like episodes, tremor, involuntary movements, language impairment, and gait impairment. Hashimoto's encephalopathy is a relatively rare disease. As a good response can be obtained with corticosteroid therapy, early diagnosis and treatment is very beneficial for patients. Here we report three patients with Hashimoto's encephalopathy with typical manifestations of hallucinations that were associated with hypothyroidism, hyperthyroidism, and euthyroid status, respectively. They all showed a dramatic response to methylprednisolone pulse therapy.
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PMID:Hashimoto's encephalopathy: report of three cases. 2544 53

Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare disease. PERM consists of the same symptoms as stiff person syndrome, in addition to sensory, brainstem and autonomic features. We herein report a case of PERM in a 48-year-old woman who initially presented with spasticity of the lower limbs and subsequently developed upper limb spasticity, perioral myoclonus and restlessness after three months. The onset of potentially fatal dysautonomia was observed at the peak of the disease. Treatment with high-dose immunoglobulin (400 mg/kg, 5 days), levetiracetam and azathioprine resulted in a drastic and sustained improvement of these symptoms. This is an interesting case of PERM in which the patient showed a dramatic improvement following immune moderation.
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PMID:Successful immune moderation treatment for progressive encephalomyelitis with rigidity and myoclonus. 2574 16

Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME)/familial adult onset myoclonic epilepsy (FAME) is a nonprogressive disorder characterized by (1) distal tremors that are usually precipitated by posture and action; (2) stimulus-sensitive myoclonus that is predominantly seen in the upper limb and is precipitated by photic stimuli, fatigue, emotional stress, and sleep deprivation; (3) seizures that were predominantly of the generalized tonic-clonic type that showed significant response to antiepileptic drugs (AEDs). ADCME has been reported worldwide with different genetic loci in Japanese families (8q23.3-q24.1), Italian families (2p11.1-q12.2), a French family (5p15.3.1-p15.1), and a Thai family (3q26.32-q28). ADCME has not been reported in South India and is still not recognized as an independent entity under the International League Against Epilepsy (ILAE). We report 241 patients with ADCME identified belonging to 48 families. The 48 families are domiciled in two southern districts of Tamilnadu in India, belonging to a community called "Nadar" whose nativity is confined to these southern districts, with reported unique genetic characteristics. This study is reported for the presentation of this rare disease in a unique ethnic group, and is the largest single report on ADCME worldwide.
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PMID:Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME) in a unique south Indian community. 2674 94


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