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

A 42-year-old woman who presented phenytoin intoxication induced by acute hypothyroidism was reported. She had a 29-year history of hypothyroidism and a 18-year history of epilepsy. She was treated with phenytoin (PHT) 100 mg, mephobarbital (MPB) 200 mg, valproic acid (VPA) 400 mg and thyroid powder 100 mg daily for 2 years. She had no medical problem until she noticed gait disturbance and diplopia which appeared 1 month after sudden withdrawal of thyroid powder. On admission, she was somnolent and somewhat disoriented. She had nystagmus in horizontal direction of gaze. Her speech was slurred and she could not sit nor stand due to trunkal ataxia. There was prominent intentional tremor in finger-nose test and heel-shin test showed severe ataxia. Blood cell count and blood chemistry examinations were normal. Serum PHT, phenobarbital (PB) levels were elevated as to 26.4, 36.4 micrograms/ml, respectively. VPA level was low. The endocrinological examinations revealed primary hypothyroidism. EEG showed generalized slow background, but cranial MRI, EMG, SEP and ECG were normal. Thyroxine (T4) administration was started soon, and in the course of thyroid hormone replacement, her cerebellar symptoms gradually improved and serum PHT level decreased even to the subtherapeutical level with the same amount of antiepileptic drugs treatment. By the 40th day of admission, thyroid function became normal and cerebellar signs disappeared, however, she needed 200 mg PHT daily to obtain good control of epilepsy. Cerebellar symptoms of this patient were thought to be PHT intoxication rather than ataxia caused by hypothyroidism itself from the viewpoint of clinical manifestations.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of phenytoin intoxication induced by hypothyroidism]. 193 66

Neurological examination of a heifer displaying pelvic limb ataxia and paresis progressing to a dog-sit position but with normal thoracic limb function indicated a spinal cord lesion in the low thoracic/high lumbar region. The progressive neurological deterioration despite normal radiological and cerebrospinal fluid findings were suggestive of a non-inflammatory, non-traumatic extradural compressive lesion; this was subsequently shown to be a lymphosarcoma.
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PMID:Thymic lymphosarcoma with metastases causing spinal cord compression and pelvic limb paresis in a heifer. 230 8

Acute-phase and convalescent-phase sera of 66 children, aged 3 months to 12 years, with neurologic disorders of unknown etiology were tested against Legionella pneumophila polyvalent and monovalent antigens (groups 1 to 4). Three significant antibody titer increases were obtained, all in children with acute cerebellar ataxia. This neurologic syndrome was characterized by sudden onset of muscle hypotonia and inability to sit or walk, with no other specific neurologic or systemic symptoms. Persisting pharyngitis always preceded ataxia. Fever of short duration was still present. Gastrointestinal disturbance occurred in two of the three children. Abnormal laboratory findings were, not always simultaneously, high ESR and leukocytosis with lymphocytosis. CSF levels and electromyographic findings were normal in two of the children. Two children received oral betamethasone. Recovery was complete within seven to ten days without antibiotic treatment. These studies indicate the possible etiologic role of L pneumophila in acute cerebellar ataxia.
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PMID:Acute cerebellar ataxia in pediatric legionellosis. 664 29

A male, born on December 8, 1956, during the period when many Minamata diseases broke out in a district. His parents who ate much fish and shell fish taken in Minamata Bay suffered from the light, incomplete Minamata disease showing sensory disturbance, the constriction of the visual field, muscular weakness, etc. He weighed 3,225 gr. upon the normal birth given 10 months after pregnancy. His abnormalities were noted since his head was not stabilized on the neck even six months after the birth. Because of the delay in the development of the motor function, he became barely able to sit, stand up and begin walking at the ages of 3, 5 and 6 respectively. In 1962 (at the age of 6), his congenital Minamata disease was diagnosed in view of his clinical symptoms and epidemiological conditions. The mercury value in the hair and blood upon the birth is not known because a considerable time had elapsed after the birth when his mercury poisoning was discovered. However, the clinical symptoms included intelligence disturbance, character change, dysarthria, primitive reflexes, strabismus, hypersalivation, ataxia and hyperkinesia, indicating a typical congenital Minamata disease. Until he became 13 years old (1969) or so, his mental and motor function developed, both gradually. In the same year, he was admitted to a special class for the handicapped. EEG examination revealed that there was a slow alpha activity in the basic pattern and that 6 Hz positive spike was found in the sleep EEG. The constriction of the visual field was classified through examination.2+
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PMID:[Congenital Minamata disease accompanied by arachnoid cyst (author's transl)]. 709 64

A 21-year-old man with acute cerebellar ataxia and sympathotonic orthostatic hypotension, following Epstein-Barr (EB) virus infection, was reported. He noticed unsteady gait 2 weeks after the development of cough, nausea and vomiting. On admission, he was unable to sit and walk due to truncal ataxia and orthostatic hypotension with marked tachycardia. Limb ataxia of moderate degree was also noted. The blood pressure was 112/42 mmHg, and the pulse rate was 64/min in supine position, and 5 minutes after standing, they were 82/42 mmHg and 128/min. In laboratory studies, no atypical lymphocytes were detected in the peripheral blood. However, the titers of antibodies, VCA-IgM, against EB virus, were x80 and x160 in serum, respectively. And the titer of VCA-IgM subsequently decreased to the normal level in two months. They were negative in the cerebrospinal fluid. The results of the autonomic function studies revealed dysfunctions of the sympathetic post-ganglionic nerves, especially of alpha-adrenergic system, with preservation of beta-adrenergic system. He recovered from cerebellar ataxia and from sympathotonic orthostatic hypotension 3 and 8 months after the onset, respectively, without residuals.
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PMID:[Acute cerebellar ataxia with sympathotonic orthostatic hypotension following Epstein-Barr virus infection--a case report]. 839 87

The authors report a case of subacute sclerosing panencephalitis in a child who had measles during the neonatal period. At 3 years, 6 months of age, over a period of a few weeks, the patient lost the ability to sit unaided as a result of progressive truncal ataxia, without apparent cognitive changes, simulating acute cerebellar ataxia. His symptoms improved in 1 month, and he was able to walk again with support, but mental alteration and periodic mild head nodding on awakening followed. His illness was diagnosed as subacute sclerosing panencephalitis on the basis of the elevated titers of measles antibodies in the cerebrospinal fluid. Measles infection before 1 year of age is a risk factor of subacute sclerosing panencephalitis, but reports about patients with neonatal measles infection are rare. Immaturity of the brain at the time of measles infection may not only be a risk factor but may also influence the clinical course of the disease.
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PMID:SSPE following neonatal measles infection. 1002 64

X-linked Charcot-Marie-Tooth disease (CMTX) is a hereditary demyelinating neuropathy caused by mutations in the connexin 32 (Cx32) gene. Cx32 is widely expressed in brain and peripheral nerve, yet clinical manifestations of CMTX mainly arise from peripheral neuropathy. We have evaluated two male patients with CMTX who on separate occasions developed transient ataxia, dysarthria, and weakness within 3 days of returning from ski trips at altitudes above 8,000 feet. Magnetic resonance imaging studies in both patients showed nonenhancing, confluent, and symmetrical white matter abnormalities that were more pronounced posteriorly and that resolved over several months. Magnetic transfer images in one patient demonstrated increased magnetization transfer ratios distinct from that seen in demyelination or edema. Both patients returned to their normal baseline within 2 to 3 weeks. These cases suggest that CMTX patients are at risk for developing an acute, transient, neurological syndrome when they travel to places at high altitudes and return to sea level. Cx32 mutations may cause central nervous system dysfunction by reducing the number of functioning gap junctions between oligodendrocytes and astrocytes, making both cells more susceptible to abnormalities of intercellular exchange of ions and small molecules in situations of metabolic stress.
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PMID:Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease. 1232 71

The prognosis of cerebellar hemorrhage with brain stem compression is known to be poor, and patients who can usually survive are severely disabled with limited benefit from conventional rehabilitation. An innovative cutaneous stimulation was administered to a chronic patient (2 years after the incidence) who has severe ataxia, gait imbalance and limb spasticity caused by cerebellar hemorrhage. After 8 months of intervention, patient's function as evaluated by two functional measures has improved by 40%. In addition, the patient's ataxia and hypotonia have improved significantly in which he has regained the abilities to grasp objects, sit upright, control his equilibrium, and monitor an electric wheelchair. The present case study demonstrated a significant improvement of a chronic severely disabled patient who received the intervention 2 years after the accident, suggesting that the cutaneous stimulation may be a possible effective neurologic intervention.
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PMID:Cutaneous stimulation improves function of a chronic patient with cerebellar damage. 1275

A Japanese boy had clinical features of congenital disorder of glycosylation type Ia (CDG Ia, also known as carbohydrate-deficient-glycoprotein syndrome, previously), and enzymatic and molecular assay of phosphomannomutase confirmed this diagnosis. During infancy, the patient showed delayed mental and motor development, hypotonia, ataxia, hepatomegaly, liver dysfunction, abnormal coagulation system and cerebellar hypoplasia. At present, though he is 3 years and 8 months old, he cannot utter meaningful words or sit by himself. These findings suggested that he had one of the severe phenotypes of Japanese CDG Ia. Mutational analysis demonstrated heterozygosity for the missense mutation in exon 4 (P113L) and a novel nonsense mutation in exon 7 (R194X). We report his clinical course and the results of molecular assay, and discuss correlation between clinical severity and genotype.
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PMID:Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia. 1312 99

We report a longitudinal, prospective, multicentre cohort study designed to measure the outcomes of gastrostomy tube feeding in children with cerebral palsy (CP). Fifty-seven children with CP (28 females, 29 males; median age 4y 4mo, range 5mo to 17y 3mo) were assessed before gastrostomy placement, and at 6 and 12 months afterwards. Three-quarters of the children enrolled (43 of 57) had spastic quadriplegia; other diagnoses included mixed CP (6 of 57), hemiplegia (3 of 57), undiagnosed severe neurological impairment (3 of 57), ataxia (1 of 57), and extrapyramidal disorder (1 of 57). Only 7 of 57 (12%) could sit independently, and only 3 of 57 (5%) could walk unaided. Outcome measures included growth/anthropometry, nutritional intake, general health, and complications of gastrostomy feeding. At baseline, half of the children were more than 38D below the average weight for their age and sex when compared with the standards for typically-developing children. Weight increased substantially over the study period; the median weight z score increased from -3 before gastrostomy placement to -2.2 at 6 months and -1.6 at 12 months. Almost all parents reported a significant improvement in their child's health after this intervention and a significant reduction in time spent feeding. Statistically significant and clinically important increases in weight gain and subcutaneous fat deposition were noted. Serious complications were rare, with no evidence of an increase in respiratory complications.
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PMID:Gastrostomy tube feeding in children with cerebral palsy: a prospective, longitudinal study. 1570 29


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