Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A rare point mutation at nucleotide position 8356 in the transfer RNA gene in mitochondrial DNA was found in a Japanese family. Our proband had migraine and dementia associated with lactic acidosis in addition to myoclonic epilepsy with ataxia and ragged-red fibres in a muscle biopsy specimen consistent with the clinical characteristics of myoclonic epilepsy with ragged-red fibres (MERRF). His mother, who had the same point mutation, also had migraine but without myoclonus or ataxia. His aunt, who had the same point mutation and migraine, developed diabetes mellitus, encephalomyopathy and several stroke-like episodes associated with lactic acidosis (MELAS). This is the third family with the rare mutation seen in American and Italian families. The mutation may not be specific to Caucasians, and is probably closely related to the MERRF/MELAS overlap syndrome.
 ...
PMID:The T-C(8356) mitochondrial DNA mutation in a Japanese family. 880 15

We present here a report on a 5-year experience in clinical investigation, diagnostic management and molecular genetic studies of neuromitochondrial disorders, defined on the basis of morphological, biochemical and genetic findings. Leigh disease is the most frequent clinical presentation in infancy and childhood, but symptoms at onset are poorly informative. In paediatric cases, lactic acidosis and neuroradiological abnormalities are frequent, and can be of help for the diagnostic orientation. In the adult population, muscle weakness, ophthalmoplegia with ragged-red fibres, retinitis pigmentosa, progressive myoclonal ataxia, and early-onset stroke-like episodes, are frequently combined in complex syndromes that are often familial (maternally inherited) and/or associated with well-established mutations in mitochondrial DNA (mtDNA). However, the presence of overlap syndromes and features common to many neuromitochondrial diseases can complicate the clinical evaluation and the diagnostic approach. The pathogenicity of a given mtDNA mutation can frequently be ascertained by correlating the degree of heteroplasmy with the clinical or biochemical phenotypes. Moreover, transmitochondrial cybrids can be used to test the effects of either mitochondrial or nuclear gene abnormalities in a fully controlled, user-friendly and highly informative system.
 ...
PMID:Neurological presentations of mitochondrial diseases. 888 74

Minor trauma, a kick to the center of the back during roughhousing with an 8-year-old sibling, produced an ischemic cerebellar infarct in a 5-year-old boy. The boy was brought to medical attention because of vomiting and headache. He also had ataxia. Results of laboratory studies, structural examination, and cerebrospinal fluid analysis were noncontributory. An irregular, low-density region in the left cerebellar hemisphere of unknown cause was seen on computed tomography scans. Magnetic resonance imaging (MRI) revealed an area of signal alteration hyperintense on the T2-weighted image and mildly hyperintense on the proton-density image in the leftward cerebellar hemisphere. The distribution was most compatible with that of an acute superior cerebellar arterial infarction. No other abnormalities were detected. The patient was treated with oral prednisolone, recovered, and had no further episodes or sequelae. The authors recommend that post-traumatic stroke be considered early in the differential diagnosis of a child with the triad of symptoms seen in the patient described. They suggest that glucocorticoid therapy on a short-term basis may have a place in more rapid resolution of symptoms.
 ...
PMID:Ischemic cerebellar infarct in a 5-year-old boy: sequela to minor back trauma. 893 30

To get a better insight into the clinical differentiation between vertigo of cerebrovascular origin and of aural origin, we investigated radiologically proven stroke patients who presented with vertigo as an initial clinical manifestation. Of 154 stroke patients, 30 patients with vertigo (20%) had the relevant lesion, demonstrated with the initial computerized tomographic scan (13 patients) or the follow-up magnetic resonance imaging (MRI) study (17 patients) of the brain. Every lesion was in the vertebrobasilar arterial territory; 19 in the cerebellum, 8 in the pons, and 3 in the medulla oblongata. Although 12 of the 30 patients (40%) presented with vertigo in isolation at the onset of stroke, eight patients (27%) developed additional neurologic abnormalities from four hours to seven days later. Patients with isolated vertigo (13%) had the small lesion exclusively in the cerebellum of the PICA medial branch territory. The most frequent accompanying neurological sign was swaying in the cerebellar and medullary lesion, and dysarthria in the pontine lesion. The direction of nystagmus or swaying did not match the lesion side in some patients. Our findings suggest that cerebellar stroke may commonly manifest isolated vertigo or vertigo with swaying mimicking labyrinthine disorder, particularly at the onset of the disease. MRI study and tests for truncal ataxia and lateropulsion may be crucial for the detection of vertigo of cerebrovascular origin.
 ...
PMID:Vertigo of cerebrovascular origin proven by CT scan or MRI: pitfalls in clinical differentiation from vertigo of aural origin. 896 9

We report a 91-year-old man who had a stroke and died of renal failure. He had been treated for hypertension since 20 years before the onset of the present illness. In addition, he was operated on a gastric cancer 17 years previously. Otherwise he was doing well until May 29, 1991 (when he was 87-year-old) when he had sudden onset of dysarthria and right facial weakness. He was admitted to our hospital. On admission, general physical examination was unremarkable, and neurologic examination revealed a mentally sound man with slight dysarthria, right facial weakness, orolingual dyskinesia, and dysequilibrium in which he showed difficulty in tandem gait; however, no cerebellar ataxia was noted. A cranial CT scan revealed leukoaraiosis with multiple low density areas in the cerebral white matter. His BUN was 37 mg/dl and Cr 2.2 mg/dl. His neurologic symptoms cleared within the next few weeks and he was discharged with ticlopidine 100 mg q.d.. He had been doing well after the discharge except for gradual worsening of his renal function; his BUN was 65 mg/dl and Cr 3.27 mg/dl in April of 1994. On March 10, 1995, he fell down and hit his back; he became unable to walk because of pain, and he was admitted again on March 16, 1995. On admission, his blood pressure was 170/80 mmHg. There was an 1 + pitting pretibial edema; otherwise general physical examination was unremarkable. Neurologic examination revealed an alert and oriented man, however, Hasegawa's dementia scale was 23/30. Higher cerebral functions as well as cranial nerves were intact. He showed some unsteadiness of gait, however, no motor weakness or ataxia was noted. Deep tendon reflexes were diminished, but Chaddock sign was positive bilaterally. Vibration was diminished in the feet, however, pain and touch sensations were intact. Laboratory examination revealed a compression fracture of the twelfth thoracic vertebra. Blood count and chemistries were as follows; Hb 7.6 g/dl, Hct 23.3%, TP 6.0 g/dl, Alb 3.6 g/dl, BUN 87 mg/dl, Cr 4.53 mg/dl, T-Chol 174 mg/dl, HDL-Chol 49 mg/dl, Glu 156 mg/dl, Na 142 mEq/L, K 5.4 mEq/L, Cl 115 mEq/L. A urine specimen contained 1 + protein and 1 + glucose, and the sediments contained hyaline casts. A cranial CT scan was essentially same as that taken four years ago. His hospital course was complicated with pneumonia, congestive heart failure, and progressive renal failure. He was treated with intravenous fluid, chemotherapy, and other supportive measures, however, he expired from respiratory failure on April 30, 1995. He was discussed in a neurologic CPC, and the chief discussant arrived at the conclusion that the patient had Binswanger's disease in the brain, benign nephrosclerosis from arteriolosclerosis due to hypertension, congestive heart failure, and pneumonia. Opinions were divided regarding the question as to whether or not this patient had Binswanger's disease. Although his cranial CT scan revealed leukoaraiosis, his dementia and gait disturbance was only mild until his fall on March, 1995. Clinical features did not conform to those of Binswanger's disease. Postmortem examination of the right hemisphere revealed wide spread atherosclerosis and arteriolosclerosis. The kidney showed benign nephrosclerosis due to arteriolosclerosis. Sclerotic changes were also seen in the coronary arteries and the left middle cerebral artery with 70% stenosis. Myelin stain showed diffuse myelin pallor of the cerebral white matters with scattered small infarcts. Arterioles in the white matter showed arteriolosclerosis. Small infarcts were also seen in the putamen and in the thalamus. This patient appeared to have had circulatory disturbance of the white matter which is the basic abnormality causing Binswanger's disease. However, white matter changes in this patient were not quite severe enough to make a pathologic diagnosis of Binswanger's disease.
 ...
PMID:[A 91-year-old man with a stroke, hypertension, and renal failure]. 899 Apr 84

A 72-year-old man developed a sudden weakness in his left hand on October 5, 1991. He was admitted two weeks thereafter. Physical examination revealed minimal weakness, and clumsiness of the fingers on his left hand. Exaggerated tendon reflexes and spasticity were also noted only on his left upper limb. He had neither dementia nor psychiatric symptoms. Subsequently he developed weakness in his left leg on November 17. Within 12 days he developed left facial weakness, and myoclonic movements on the left side. By December 2, he developed spastic tetraparesis with bilateral facial palsy, and generalized myoclonic jerks. A few days after that he started to show decorticate posture. From December 16, his mental status deteriorated rapidly, and he became mute, and uncooperative within a week. His clinical course can be summarized as stepwise progression similar to a cerebrovascular accident. Electroencephalography was normal on admission, but periodic synchronous discharge developed in January 1992. Brain CT that showed only mild brain atrophy at first was considered to be compatible with his age, changed to have severe brain atrophy in March 1992. He died of pneumonia on May 24, 1992 after eight months of progressive clinical course. Autopsy was done. The brain weighed 930 grams. Macroscopically there was prominent cortical atrophy. Microscopic examination revealed severe spongy state throughout the cerebral cortex. Typical spongiform changes were confined to the hippocampus. The cerebral white matter appeared to be normal. In the cerebellar cortex, the granular cell layer disappeared and Purkinje's cells were reduced in number. Kuru plaques were not seen. The cerebellar white matter, dentate nucleus, and brainstem seemed to be normal. The spinal cord was not examined. There were no pathological changes to indicate cerebrovascular accident, except for a lacuna in the right basal ganglion and a small angionecrosis in the pons. Western blotting test using Anti-APC (amyloid plaque core) antibody was positive. Neuropathological changes of the present case were consistent with those of CJD. However, the sudden onset of monoparesis without dementia or ataxia is rare as the initial symptom of this disease. The subsequent clinical course with stepwise progression of hemiplegia, which was mimicking a progressive stroke, was also rare for CJD. In comparison to typical case of CJD, this case had a different clinical onset as acute monoparesis. We can find such cases of CJD presenting as stroke in 5.6% in the previous English literatures.
 ...
PMID:[A case of Creutzfeldt-Jakob disease (CJD) started with monoparesis of the left arm]. 904 57

We present a case of persistent hiccups (singultus) after a lateral medullary cerebrovascular accident. The patient presented with a two-day history of nausea and vomiting. Clinically, the patient had a loss of pain and temperature on the left side of the face, a loss of pain and temperature on the right side of the trunk, a mild left hemiparesis, and a left-sided ataxia. Nystagmus, diplopia, and hiccups were also evident. A left lateral medullary syndrome in the vascular distribution of the posterior inferior cerebellar artery was diagnosed. Work-up included a magnetic resonance imaging angiogram, which revealed an occlusion v high-grade stenosis of the basilar artery. The patient reported that the most distressing symptom was the chronic hiccups (25/min), which interfered with nutrition, sleep, and activity. While in the acute care hospital, the patient was treated with prochlorperazine, promethazine, and chlorpromazine. Each of these medications was unsuccessful in stopping the hiccups. After a search of the European literature revealed that baclofen was recommended as the drug of choice for stopping persistent hiccups, the patient was given 5 mg of baclofen by mouth three times per day, and the hiccups abated within 48 hours. The baclofen was discontinued after one week of therapy, and the hiccups did not return. We recommend consideration of baclofen for the treatment of persistent hiccups after lateral medullary syndrome because of its desirable side effects and reported success rate compared with other drugs used to treat chronic hiccups.
 ...
PMID:Hiccups associated with lateral medullary syndrome. A case report. 912 21

The symptoms of urinary incontinence, ataxia, and mental confusion are an integral part of the clinical presentation of normal pressure hydrocephalus (NPH). They are also common presentations in the rehabilitation setting of patients who have had a cerebral vascular accident. The concurrence of these entities challenges the physiatrist to carefully diagnose and properly manage the patient to maximize the rehabilitation outcome. In the older population the clinical picture may be clouded by several overlapping conditions such as dementia, deconditioning, and age-related decline in bladder control. A case is presented in which the diagnosis of NPH was made after the patient showed a lack of progress in ambulation despite dramatic improvement in strength of the lower extremities.
 ...
PMID:Normal pressure hydrocephalus and deep white matter stroke: a case report. 930 80

We studied clinical manifestations of sixteen patients with cerebellar infarcts diagnosed by MRI. In fourteen of them, the stroke developed abruptly with vertigo, which continued for several days. At the early stage of illness, ataxia was obscure. But after vertigo and nausea disappeared, nine cases showed truncal ataxia, while limb ataxia was found in only five. Their vertigo was rotatory and aggravated by head movement. Gaze-evoked nystagmus was observed in only 5 cases. Four patients preferred to take unilateral posture since they experienced less vertigo. The side of their lesions was the lower side of their posture. Limb ataxia was more frequent in SCA-involving cases than in SCA-non involving cases (3 out of 6 vs 2 out of 10, respectively). On the other hand, headache was more frequent in PICA-involving cases than in PICA-non-involving cases (6 out of 11 vs 1 out of 5, respectively). Ataxic gait was seen more in medial branch-involving cases than medial branch non-involving cases (5 out of 6 vs 4 out of 10, respectively). One patient died due to obstructive hydrocephalus.
 ...
PMID:[A study of MRI and clinical neurology in acute cerebellar infarcts]. 939 54

A 32-year-old woman developed chronic progressive hearing impairment, trunkal ataxia, bilateral ptosis and external ophthalmoplegia. She also showed slowly progressive mild to moderate proximal dominant muscle weakness and atrophy. ECG showed incomplete right bundle branch block. An aerobic exercise test showed abnormal blood lactate elevation and muscle biopsy revealed ragged-red fibers in addition to the myopathic change. Analysis of mitochondrial DNA extracted from biopsied muscle and fibroblast samples revealed a 1,758bp deletion from the cytochrome b to ND6 coding regions. Common mutations in tRNALeu(UUR) coding region to the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) were not present. She was diagnosed as having incomplete Kearns-Sayre syndrome (KSS). Since the age of 35, she developed complex partial seizure attacks with secondary generalization frequently and at the age of 42, she had a severe generalized seizure with delayed consciousness loss followed by left hemiplegia. MRI showed wide T2-high signal lesions in the right temporo-parieto-occipital area. The proton MR-spectroscopy showed prominent increase of lactate beyond the lesions detected by MRI, indicating diffuse aerobic metabolic dysfunction in the central nervous system. We reviewed two other KSS cases with a stroke like episode, who also had epilepsy and large deletion but no tRNALeu(UUR) mutation, in mitochondrial DNA. Patients with KSS who have seizure may develop the stroke-like episode as seen in MELAS patients.
 ...
PMID:[A case of incomplete Kearns-Sayre syndrome with a stroke like episode]. 940 43


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