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 familial disorder was characterized by chorea, ataxia, myoclonus, convulsions, dementia, and mental retardation. In five cases, the main lesion affected cerebellar dentate nuclei, with nerve cell loss, gliosis, chromatolysis, and grumose degeneration. Fibrous glial cell proliferation was detected in the globus pallidus.
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PMID:Familial chorea and myoclonus epilepsy. 9 88

A unique syndrome consisting of episodic hyperpnea, abnormal eye movements, ataxia and mental retardation, associated with agenesis of the cerebellar vermis, has been delineated in four siblings by Joubert et al. (1969). We describe three other children with this clinically recognizable condition which we suggest to call Joubert syndrome. There is good evidence that it is inherited as autosomal recessive. Two of out patients were brothers, the third child's parents were related. Recognition of this syndrome is important in view of prognosis and for genetic counseling.
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PMID:Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. 57 33

Four children who at ages from five months to three years developed an acute (one case), subacute (two cases) and chronic form (one case) clinical picture of ataxia, myoclonus, ocular dyskinesia and behaviour disorder are reported. In one of them there was, in addition mental retardation. Response to treatment with ACTH was successful. Clinical and evolutive characteristics of this process as well as the variety of ocular manifestations are emphasized.
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PMID:[Kinsbourne's disease. Study of four cases (author's transl)]. 69 15

Similar movement disorders developed in two 8-year-old retarded children while they were receiving phenytoin. Seizures subsequent to a diphtheria-pertussis-tetanus immunization had developed in each child at 1 to 2 months of age. A static encephalopathy ensued, characterized by mental retardation, ataxia, spasticity, and a mixed seizure disorder. Intermittent dystonia and choreoathetosis developed insidiously while serum phenytoin concentrations were in the therapeutic range. Sustained dystonia and choreoatheosis developed 2 hours after an oral provocation with phenytoin. The baseline abnormalities on the electroencephalogram remained unchanged during the choreoathetosis. Recognizable metabolic abnormalities known to be associated with similar movement disorders were excluded. It was concluded from these studies that the movement disorder is secondary to phenytoin and can occur at therapeutic serum concentrations. Phenytoin is a central anticholinergic agent and a central stimulant of serotonin, and may induce movement disorders as a result of altering these neurotransmitters in the brain. The variable expression of these movement disorders may relate to the nature of the preexisting striatal insult.
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PMID:Phenytoin-induced dystonia and choreoathetosis in two retarded epileptic children. 94 1

Sixteen children with anomalies of the auricle and/or middle ear who presented malformations of the face, mouth, upper airway, spine, limbs, heart, gastrointestinal (GI), and/or genitourinary (GU) systems, were described. While clusters of anomalies suggested syndromes such as the oculo-auriculo-vertebral syndrome of Goldenhar, hamifacial microsomia, mandibulo-facial dysostosis (Treacher Collins syndrome), Pierre Robin, Klippel-Feil, Moebius, Duane, and/or VATER syndromes, many children did not fit what are usually considered even minimal criteria for these syndromes. Several children had malformations which fit the description of more than one syndrome. The importance of investigating the children for unsuspected anomalies, especially of the GU system, was emphasized. Life threatening problems in this group consisted of airway problems, congenital heart disease, and major anomalies of the GI and GU systems. Better management of sucking, swallowing and airway problems might have decreased the early morbidity and mortality (3/16) in this group. Children with multiple defacing anomalies may not be mentally retarded so that aggressive management of their visceral anomalies and hearing problems, and early educational intervention are mandatory. Delay in development may be due to hearing loss, vestibular impairment, ataxia, the consequences of early malnutrition, and multiple hospitalizations rather than to mental retardation. A pessimistic attitude in infancy is unwarranted since it is impossible to predict which children will end up competitive individuals.
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PMID:Patterns of anomalies in children with malformed ears. 96 14

Three syndromes are presented in which major midline malformations of the central nervous system were associated with characteristic somatic and neurologic features in 2 or more sibs. The malformations may be suspected on clinical grouds but require confirmation by pneumoencephalography. In 3 French-Canadian sibships from the Saguenay-Lac St. Jean area of Quebec, patients with areflexia, muscular wasting and slowly progressive weakness in a paraparetic distribution were proved to have agenesis of the corpus callosum and anterior horn-cell disease, a syndrome not previously described. In another family, mental retardation, ataxia and episodic hyperpnea were associated with agenesis of the cerebellar vermis in 4 sibs. In yet another French-Canadian family, atrophy of the cerebellar vermis was associated with mental retardation, ataxia and a mild pyramidal syndrome. Because malformations of this nature are usually considered sporadic or multifactorial in origin, recognition of these specific clinical syndromes with probable autosomal recessive inheritance is important from the point of view of genetic counseling and prevention.
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PMID:Three familial midline malformtion syndromes of the central nervous system: agenesis of the corpus callosum and anterior horn-cell disease; agenesis of cerebellar vermis; and atrophy of the cerebellar vermis. 122 32

A pediatric neurologist analyzed the case histories of 30 4-16 year old children diagnosed with cerebellar ataxia in the pediatric neurology unit at the Royal Hospital for Sick Children in Edinburgh, Scotland to examine its clinical features, investigative findings, and etiology. Previous unfavorable events happened to 14 children (46.6%). Yet only 6 (42.8%) of these 14 children had unfavorable events of etiological significance. These previous unfavorable events occurred during the perinatal period (48%). These events in order of significance were asphyxia, prematurity, neonatal jaundice, and trauma. 66.6% of all children had an unsteady gait. The 2nd and 3rd most common signs of cerebellar ataxia were truncal ataxia (53.3%) and hypotonia (36.6%). The next most common symptom was considerable delay in reaching gross motor milestones (50%) such as not sitting until 2 years old. 23 (76.6%) of the children had dysfunctions in 1 of the cerebellar divisions. Clinical examination found dysfunctions most often in the paleocerebellum (86.6) followed by the neocerebellum (70%) and archicerebellum (56.6%). The paleocerebellum and the archicerebellum were the only divisions involved in 6 and 1 of the remaining children, respectively. The most common cause of ataxia was hydrocephalus (23.3%) followed by perinatal problems (20%). 70% of the patients also experienced other central nervous system conditions such as macrocephaly and mental retardation. 5 children had normal investigative findings, 3 of whom had cerebellar ataxia syndrome, 1 had congenital ataxic cerebral palsy, and 1 had familiar ataxia.
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PMID:Cerebellar ataxia in childhood: a review of clinical features, investigative findings and aetiology in 30 cases. 150 89

We have previously described a family with a neurological syndrome comprising neurogenic muscle weakness, ataxia, retinitis pigmentosa, and variable sensory neuropathy, seizures, and mental retardation or dementia. This is associated with a heteroplasmic point mutation of mtDNA at bp 8993. The mother of a severely affected child underwent prenatal diagnosis in two further pregnancies. Analysis of chorionic villus samples showed a higher proportion of mutant mtDNA on both occasions, and this was reflected in the majority of fetal tissues, including brain and muscle. Prenatal diagnosis is a rational approach to the prevention of severe diseases caused by point mutations of mtDNA but is currently hampered by incomplete knowledge concerning the proportion of mutant mtDNA: its relationship to disease severity, how it may change during fetal and postnatal development, and its tissue distribution.
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PMID:Prenatal diagnosis of mitochondrial DNA8993 T----G disease. 153 98

We describe 3 children (from two families) with a multisystemic disorder characterized by mental retardation, nonprogressive ataxia, polyneuropathy, hepatopathy during infancy and growth retardation. Due to the clinical similarities to a recently recognized disorder associated with carbohydrate-deficient transferrin, we examined serum transferrin by means of isoelectric focusing, and found increases in disialo transferrin and asialotransferrin. Removal of sialic acid with neuraminidase revealed the same transferrin phenotypes as in their parents. Similarly, carbohydrate-deficient fractions of serum alpha 1-antitrypsin were also detected. Therefore, the diagnosis was made of the recently identified carbohydrate-deficient glycoprotein syndrome. This is a genetic disorder with distinctive clinical features and multiple carbohydrate-deficient glycoproteins. These seem to be the first reported Japanese patients with this syndrome.
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PMID:The carbohydrate deficient glycoprotein syndrome in three Japanese children. 159 May 25

Wolfram syndrome is an autosomal recessive disorder beginning in childhood that consists of four cardinal features: optic atrophy, diabetes mellitus, diabetes insipidus, and neurosensory hearing loss. Aside from these features, the clinical picture is highly variable and may include other neurologic abnormalities such as ataxia, nystagmus, mental retardation, and seizures. We present two unrelated patients with Wolfram syndrome, both of whom had the four cardinal features and several other neurologic abnormalities. MRIs showed widespread atrophic changes throughout the brain, some of which correlated with the major neurologic features of the syndrome.
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PMID:Wolfram syndrome: evidence of a diffuse neurodegenerative disease by magnetic resonance imaging. 160 50


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