Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038454 (stroke)
 147,016 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present a 66-year-old patient with segmental myoclonus evoked by a brainstem infarction. The myoclonus appeared soon after a cerebrovascular accident and it was evident in the soft palate, jaw, neck, shoulders and upper limbs. Brain MRI showed infarction in the left pons and left cerebellum. Small amounts of orally administered clonazepam were remarkably effective. Electroencephalogram (EEG) and auditory brainstem response (ABR) were normal. Somatosensory evoked potential (SSEP) revealed delays in P 14 and N19 recorded at C3 by right median nerve stimulation. These findings were normalized in 4 days. Seg-mental myoclonus is thought to be evoked by olivary hypertrophy following cerebrovascular accident in the brainstem and is said to be resistant to medication. The limited involvement of the brainstem in our patient may account for the transient segmental myoclonus. The prognosis for this type of segmental myoclonus is excellent.
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PMID:Benign segmental myoclonus: electrophysiological evidence of transient dysfunction in the brainstem. 1114 81

We report three members of a family, who exhibited a phenotype similar to 'myoclonus epilepsy with ragged-red fibers' but had a genotype usually associated with 'mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes'. The patients, a 48-year-old female, and her two sons, aged 21 and 19 respectively, presented with photo-reactive syncopal episodes, disturbances of gait and writing, dysarthria and finger tremor since the 3rd and 2nd decade of life, respectively, that were accompanied also by numbness and weakness of the extremities. Subsequently, cerebellar ataxia and myoclonus were also noted. Electromyography revealed both myogenic and neurogenic muscular changes, and nerve conduction studies demonstrated a sensory-motor neuropathy. Biopsy showed ragged-red fibers with strongly stained SDH-positive vessels in skeletal muscles, and a marked loss of myelinated fibers of the sural nerves. Mitochondrial (mt) DNA analyses of peripheral blood, muscles and nerves revealed that all members had a heteroplasmic np3271 (T-C) point mutation in the mitochondrial tRNA-Leu gene (UUR). This family is unique, in that all patients presented with a myoclonus epilepsy with ragged-red fibers-like phenotype and had a distinctive peripheral neuropathy, while the detected mtDNA 327l (T-C) mutation has been reported to date only in rare cases of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes
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PMID:A mitochondrial encephalo-myo-neuropathy with a nucleotide position 3271 (T-C) point mutation in the mitochondrial DNA. 1140 19

Congenital disorders of glycosylation (CDG) and mitochondrial diseases are multisystem disorders with clinical characteristics that may overlap. We present four patients with CDG whose phenotypes suggested the diagnosis of a mitochondrial disease. Patients 1 and 2 are siblings with hemiplegic headache, stroke-like episodes, lactic acidaemia and history of maternal migraine; their initial clinical diagnosis was MELAS syndrome (mitochondrial encephalopathy, lactic acidosis and stroke-like episodes). Patient 3 suffers from ataxia, neuropathy, ophtalmoplegia and retinitis pigmentosa suggestive of NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome. Patient 4 presented with neurological regression mimicking Leigh disease, with ptosis, myoclonus, ataxia and brainstem and cerebellar atrophy. Screening for mitochondrial disease including enzyme and mtDNA investigations on muscle biopsy were performed on Patients 1, 2 and 4 with normal results. However, evidence for a glycosylation disorder was substantiated by an increased carbohydrate deficient transferrin (CDT). The isoelectric focussing pattern of serum sialotransferrin was typical of CDG type I in Patients 1, 2 and 3 and was shifted towards the less sialylated bands in case 4. A deficiency of phosphomanomutase (PMM) confirmed the diagnosis of CDG-Ia in Patients 1, 2 and 3, who are compound heterozygous for mutations R141H/T237M (Patients 1 and 2) and R141H/P113L (Patient 3). In Patient 4, PMM activity was normal, and further enzymatic and molecular studies are underway. As the search for the primary defect in mitochondrial diseases is often unsuccessful, the pool of mitochondrial patients that remain without definite diagnosis might include CDG cases. Routine screening for CDG may avoid precocious invasive investigations.
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PMID:Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease. 1158 67

Somatosensory and motor processes are closely linked to each other; smooth voluntary movements require continuous interaction of sensory and motor cortices. Sensorimotor cortical processes are readily studied with magnetoencephalography (MEG) by recording evoked responses to external stimuli or spontaneous brain oscillations. With whole-scalp coverage activation of several cortical source areas can be detected even when they are temporally overlapping. For example, electric median nerve stimuli has been shown to activate at least five different widely distributed cortical areas. With MEG recordings, temporal order of activation of different areas can be monitored to reveal functional organization of the somatosensory cortical network. Temporal resolution in millisecond scale is needed also in studies of spontaneous brain rhythms. Somatomotor mu-rhythm, with its characteristic 10 and 20Hz peaks, is typically observed over bilateral sensorimotor cortex. Mu rhythm is dampened during tactile stimulation, movement or even during action observation. Reactivity of the cortical rhythm can be quantified by temporal spectral evolution (TSE) analyses; changes in reactivity of rhythm may reveal modifications in exitatory/inhibitory balance of the sensorimotor cortex. Many neurological diseases, such as stroke and cortical myoclonus, distort activation of sensorimotor cortical network. Identification of modified activation sequences and their comparison with patients' clinical signs and symptoms may reveal pathophysiological mechanisms underlying the diseases.
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PMID:Temporal organization of cerebral events: neuromagnetic studies of the sensorimotor system. 1167 2

Hashimoto's encephalitis was first described more than 30 years ago. The clinical picture is typically that of a subacute encephalopathy with a moderate to marked alteration of consciousness, seizures, myoclonus or tremulousness. Additional stroke-like episodes can occur along the course of the disease which may be monophasic or relapsing. The diagnosis of Hashimoto's encephalitis requires the presence of an elevated titer of antithyroid antibodies (mainly anti-thyroperoxidase and also anti-thyroglobulin) which is not necessarily associated with obvious thyroid dysfunction. The results of neurologic investigations are not specific and show typically a global slowing of the EEG, a moderately high CSF protein content and a normal or near normal imaging except in rare cases. The disorder is considered autoimmune and is remarkably responsive to corticosteroids which must be started as soon as possible after the diagnosis has been confirmed biologically. The long-term prognosis is usually good but some patients may die or present major neurologic sequelae.
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PMID:[Hashimoto's encephalitis]. 1240 5

We report an unusual case of encephalo-entero-myopathy associated with the A8344G mutation in the tRNA(Lys) gene of mitochondrial DNA (mtDNA). This patient had mitochondrial myopathy, multiple lipomatosis, mild hearing loss, stroke-like episodes, and paralytic ileus, but she lacked the canonical clinical features of MERRF, myoclonus, epilepsy, or ataxia. We conducted genetic, biochemical, histochemical, and immunohistochemical studies in skeletal muscle, brain, intestine, and lipoma tissue. The mutation was abundant in all tissues, and cytochrome c oxidase (COX) activity was selectively decreased in brain and small intestine. COX deficiency was also documented histochemically and immunohistochemically in the small intestine, suggesting that mitochondrial dysfunction played a role in the pathogenesis of paralytic ileus. This case illustrates an unusual and dramatic clinical phenotype of the A8344G mutation, characterized by stroke-like episodes and acute ileus.
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PMID:The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction. 1247 64

Creutzfeldt-Jakob disease (CJD) causes diffuse neurological symptoms, but asymmetric lesions have been found on conventional magnetic resonance imaging (MRI) and diffusion-weighted imaging (DWI). Less often, position emission tomography (PET) scanning can also reveal asymmetric lesions in patients with CJD. Such imaging may mislead clinicians. The authors present a case of a woman with CJD who was diagnosed as having suffered a stroke because she had asymmetric T2-weighted imaging (T2WI) MRI abnormalities that were interpreted as a stroke. It was noted that the patient had clinical features consistent with CJD, including rapidly progressive dementia, myoclonus, cerebellar dysfunction, and pyramidal and extrapyramidal signs. This diagnosis was supported by periodic epileptiform discharges on the electroencephalogram (EEG) and by elevated 14-3-3 protein in the cerebrospinal fluid. MRI T2WI and DWI showed dramatically asymmetric abnormalities involving the left cortex. A PET study found decreased metabolism in the left cerebral and right cerebellar hemispheres. The patient's clinical, EEG, and laboratory data were all consistent with CJD, not other diseases, but the MRI and PET had atypical, asymmetric findings. This case demonstrates that CJD should be considered in the differential diagnosis of patients with rapidly progressive neurological decline, even if they have asymmetric imaging findings.
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PMID:Asymmetric neuroimaging in Creutzfeldt-Jakob disease: a ruse. 1456 34

Characteristic clinical findings of Hashimoto's encephalopathy (HE) are stroke-like episodes, epileptic seizures, myoclonus, psychosis, and progressive cognitive impairment. Diagnosis of HE is supported by elevated antithyroid antibodies, an abnormal EEG, and by good response to steroids. We report on a 74-year-old female patient with a severe depressive episode who showed no treatment response to citalopram 40 mg/day and venlafaxine 150 mg/day. Diagnostic examination revealed an abnormal EEG, elevated thyroid peroxidase antibodies (TPO-Ab), and older postinflammatory changes in thyroidal sonography. We diagnosed a depression in HE and began treatment with prednisolone 70 mg/day with stepwise dose reduction, continuing treatment with venlafaxine 150 mg/day. Within 4 weeks of treatment, the severe depressive episode disappeared as well as abnormal EEG. In addition, serum values of TPO-Ab decreased. In HE, depressive symptoms can possibly be seen in a subgroup of patients or in the early course of the disease. Diagnosis of HE should be included in diagnostic procedures in cases of therapy-refractory depression because of a good response of HE to steroids.
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PMID:[Depression in Hashimoto's encephalopathy. Successful treatment of a severe depressive episode with a glucocorticoid as an add-on therapy]. 1544 21

Cerebellar syndromes and radiologic cerebellar atrophy after hyperpyrexia have occasionally been reported, mostly in neuroleptic malignant syndromes, but neuropathologic studies are extremely rare. We studied 3 patients (a 74-year-old woman, a 63-year-old man, and an 80-year-old man) who had heat stroke during heat waves in France. One patient had generalized seizures and died 28 hours after admission. The other patients survived one month and 2 months after admission; both had palatal myoclonus, and in one case, magnetic resonance imaging showed high signal intensity in the cerebral peduncles. The main neuropathology in the 3 cases was severe diffuse loss of Purkinje cells associated with heat shock protein 70 expression by Bergmann glia. In situ end labeling was negative in surviving Purkinje cells, suggesting that the mechanism of neuronal death was not apoptosis. Degeneration of Purkinje cells axons resulted in myelin pallor of the white matter of the folia and of the hilum of the dentate nuclei. DNA internucleosomal breakages were identified by in situ end labeling in the dentate nuclei and centromedian nuclei of the thalamus and were associated with degeneration of the cerebellar efferent pathways: superior cerebellar peduncles, decussation of the superior cerebellar peduncles (Wernekinck commissure), and dentatothalamic tract. These findings suggest that the mechanisms of neuronal death in the dentate nuclei and centromedian nuclei of the thalamus was different from that in Purkinje cells and more likely resulted from deafferentation. Ammon's horn and other areas susceptible to hypoxia were spared. These observations confirm the selective vulnerability of Purkinje cells to heat-induced injury and involvement of the cerebellar efferent pathways in palatal myoclonus.
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PMID:Brain damage after heat stroke. 1625 91

Hashimoto's encephalopathy (HE) is a severe but treatable condition that rarely complicates Hashimoto's thyroiditis. Clinically it is characterized by progressive or relapsing symptoms, including tremor, myoclonus, stroke-like episodes, seizures, impairment of consciousness, and dementia. We describe a patient presenting with recurrent generalized convulsive status epilepticus (GCSE), despite antiepileptic medications, who was successfully treated with methylprednisolone. Our observation confirms that the clinical spectrum of HE at presentation is heterogeneous and diagnosis is often difficult. This case highlights the crucial importance of antithyroid antibody measurement in patients presenting with otherwise unexplained episodes of GCSE with or without adjunctive signs of encephalopathy or thyroiditis.
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PMID:Recurrent status epilepticus as the main feature of Hashimoto's encephalopathy. 1634 98


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