1/150. cerebellar ataxia following whooping cough.bordetella pertussis (BP), the agent of whooping cough, has not been recognized so far as a cause of permanent cerebellar ataxia in human. We describe three patients who developed a disabling and permanent cerebellar syndrome soon after whooping cough. In two patients, diagnosis of BP infection was confirmed by culture of nasopharyngeal secretions. The infection occurred between the age of 13 and 15 years, with neurological symptoms beginning after a delay varying from 3 weeks to 3 months. In our three patients, the cerebellar syndrome was characterized by dysmetria of ocular saccades, scanning speech and ataxic gait. brain MRI demonstrated a pancerebellar atrophy. The pathogenesis of this cerebellar degeneration is not established. Experimental studies have demonstrated that the cerebellum is particularly vulnerable to lymphocytosis-promoting factor (LPF), one of the exotoxins from BP. The mechanism of this toxicity might be a marked increase in the cellular levels of 3',5'cyclic guanosine monophosphate (cGMP). Since whooping cough is a bacterial exotoxin-mediated disease, this is the first report of a cerebellar syndrome triggered by a bacterial exotoxin.- - - - - - - - - - ranking = 1keywords = ocular (Clic here for more details about this article) |
2/150. Movement-related cerebellar activation in the absence of sensory input.Movement-related cerebellar activation may be due to sensory or motor processing. Ordinarily, sensory and motor processing are obligatorily linked, but in patients who have severe pansensory neuropathies with normal muscle strength, motor activity occurs in isolation. In the present study, positron emission tomography and functional magnetic resonance imaging in such patients showed no cerebellar activation with passive movement, whereas there was prominent movement-related cerebellar activation despite absence of proprioceptive or visual input. The results indicate that motor processing occurs within the cerebellum and do not support the recently advanced view that the cerebellum is primarily a sensory organ.- - - - - - - - - - ranking = 10.383683688065keywords = movement (Clic here for more details about this article) |
3/150. Detection of a rare Wilson disease mutation associated with arylsulfatase A pseudodeficiency.We have studied a patient with Wilson disease (WD), belonging to a family segregating late-onset, dominant cerebellar ataxia. Analysis of the WD gene showed that the patient is a compound heterozygote, carrying the 14His1069Gln mutation from the father and the 8Gly710Ser mutation from the mother. The 8Gly710Ser is a mutation described previously only in a Swedish patient. Our patient is also homozygous for arylsulfatase A pseudodeficiency. This genetic defect, which has been reported in association with other neuropsychiatric syndromes, has not been described in WD.- - - - - - - - - - ranking = 8.8113280589479keywords = deficiency (Clic here for more details about this article) |
4/150. history of Joubert syndrome and a 30-year follow-up of the original proband.The 1960s were a period of great flowering in the recognition of neurologic disorders in children. The so-called ataxic cerebral palsies were an especially fertile field waiting for clarification. Congenital ataxia coupled with hyperpnea-apnea, abnormal eye movements, and retardation was identified as an autosomal-recessive syndrome eponimically associated with the senior author, Marie Joubert. The disorder, though rare, is increasingly recognized and a lay society dedicated to family support and research has been formed. In preparation for a recent symposium the original proband was re-examined 30 years later and the manifestations in adults clarified. Severe dysarthria was the most striking feature in this man, the hyperpnea-apnea had diminished, and the abnormal eye movements were less striking. Ataxia was still present but not severe. Poor judgment and borderline intelligence rounded out the clinical picture. Modern imaging has clarified, in part, the anatomic basis of this syndrome.- - - - - - - - - - ranking = 116.43026865945keywords = eye movement, movement, eye (Clic here for more details about this article) |
5/150. Post malaria cerebellar ataxia and ocular flutter: report of two cases.We report two cases of post malarial cerebellar ataxia presenting with severe ocular flutter, in a female of 72 years and a male of 20 years. Both patients had falciparum malaria infection. CT scans of both patients were within normal limits for the age. Cerebellar signs as well as ocular flutter responded very well to moderate doses of prednisolone therapy.- - - - - - - - - - ranking = 6keywords = ocular (Clic here for more details about this article) |
6/150. A case of hereditary ceruloplasmin deficiency with iron deposition in the brain associated with chorea, dementia, diabetes mellitus and retinal pigmentation: administration of fresh-frozen human plasma.We report a familial case of hereditary ceruloplasmin deficiency (HCD) showing an A-G transition in intron 6 of the ceruloplasmin gene. Clinical features consisted of chorea, cerebellar ataxia, dementia, diabetes mellitus, retinal pigmentation and iron deposition in the liver and brain without copper overload in those organs. The patient's children and siblings had similar laboratory results, but did not show any neurological abnormalities. She was medicated for diabetes mellitus at 43 years of age, and neurological signs appeared when she was 52 years old. The laboratory findings were anemia, low concentrations of iron and copper in serum and of copper in urine. ceruloplasmin was not detected in the serum. The iron and copper contents in the liver were 3,580 and 10 microg/g wet tissue, respectively. MRI of the brain showed iron deposition in the basal ganglia, dentate nucleus and thalamus. This case did not show any abnormal increase in copper in the blood and urine following CuSO(4)5H(2)O oral overloading test. Following the intravenous administration of commercially available fresh-frozen human plasma (FFP) containing ceruloplasmin, the serum iron content increased for several hours due to ferroxidase activity of ceruloplasmin. In the liver, the iron content decreased more with the combined intravenous administration of FFP and deferoxamine than with FFP administration alone. Her neurological symptoms improved following repetitive FFP treatment.- - - - - - - - - - ranking = 8.8113280589479keywords = deficiency (Clic here for more details about this article) |
7/150. Opsoclonus in a patient with cerebellar dysfunction.After two days of malaise, headache, nausea, and vomiting, a 26-year-old man suddenly developed opsoclonus and stance and gait ataxia, without myoclonus. Having excluded a paraneoplastic etiology, we assumed that the disorder was probably related to a viral infection. Spontaneous resolution occurred in about two months. Opsoclonus became flutter dysmetria and then resolved. Saccadic eye movement recording disclosed the occurrence of hypermetria, increased velocity, and delayed latency, which also resolved. In this patient, the correspondence between clinical and ocular motor abnormality courses suggests a transient cerebellar dysfunction as the possible pathophysiologic mechanism for opsoclonus.- - - - - - - - - - ranking = 2436.232347075keywords = opsoclonus, eye movement, movement, ocular, eye (Clic here for more details about this article) |
8/150. Early onset cerebellar ataxia with retained tendon reflexes: foot deformity in a first grade family member.Early onset cerebellar ataxia with retained tendon reflexes (EOCA) is a clinical syndrome characterised by progressive cerebellar ataxia with an onset before the age of 25 years and a wide spectrum of associated features. It is distinguished from Friedreich's ataxia (FA) mainly by the preservation of tendon reflexes, a better prognosis, and the absence of GAA expansion in the frataxin gene. Although EOCA is thought to be a hereditary disorder with an autosomal recessive mode of inheritance, genetic heterogeneity might underlie the spectrum of clinical features. In this case report we describe a patient with EOCA accompanied by pes cavus, hammer toes and peripheral neuropathy. The patient's father did not have any ataxia, but had the same foot deformities as his daughter and a slight peripheral neuropathy. The possible relationship between these clinical features is discussed.- - - - - - - - - - ranking = 2.8845796041625keywords = tendon (Clic here for more details about this article) |
9/150. Pseudochoreoathetosis in four patients with hypesthetic ataxic hemiparesis in a thalamic lesion.Thalamic lesions give rise to a variety of clinical syndromes including choreoathetotic movements and ataxic hemiparesis as well as sensory deficits. We describe four patients exhibiting pseudochoreoathetosis, hypesthesia, and ataxic hemiparesis in the limbs contralateral to a thalamic lesion. Three of the four patients showed the involuntary movements within 10 days of stroke onset; the remaining patient was not seen until 4 years later. Three had infarction and the other one hemorrhage in the posterior and lateral thalamus. All the patients had both cerebellar and sensory ataxia. These cases suggest that failure to convey proprioceptive information be the basic pathophysiology of pseudochoreoathetosis.- - - - - - - - - - ranking = 10.383683688065keywords = movement (Clic here for more details about this article) |
10/150. Paroxysmal tonic upgaze: physiopathological considerations in three additional cases.Paroxysmal tonic upgaze of childhood has been described as a benign distinctive syndrome of abnormal ocular movement, with or without concomitant ataxia. After the first observation of four children, a further 29 patients have been reported with a wide spectrum of neurologic abnormalities such as ataxia, unsteady of gait, learning disabilities and mental retardation at follow-up. Electroencephalograms were normal in all the subjects and magnetic resonance imaging showed deficient myelination in only one patient. Recently it has been suggested that paroxysmal tonic upgaze could be a heterogeneous syndrome, ranging from a simply age-dependent manifestation to a clinical appearance of a variety of disorders affecting the corticomesencephalic loop of vertical eye movement. Moreover, it also could be an early sign of more widespread neurologic dysfunction. We describe three patients who presented paroxysmal tonic upgaze; in one, ataxia was present; in the second child, ataxia and language disorder also were observed; and in the third patient paroxysmal tonic upgaze was associated with loss of muscle tone (drop-attack-like events). On magnetic resonance imaging, a pinealoma compressing the dorsal mesencephalic region was detected. On the basis of our observations, we suggest that any insult with periaqueductal mesencephalic gray-matter involvement could be considered the basic condition for this peculiar clinical manifestation.- - - - - - - - - - ranking = 64.406976173756keywords = eye movement, movement, ocular, eye (Clic here for more details about this article) |
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