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 relationship between disordered metabolism of purines and the central nervous system has been established by the Lesch-Nyhan syndrome. In this disorder a virtually complete defect in the activity of HGPRT is associated with a syndrome of severe mental retardation, choreoathetoid cerebral palsy, and bizarre, self-mutilative behavior. In patients with partial defects in HGPRT, two have had symptoms that have been labeled spinocerebellar. Neither were appreciably ataxic, and the relationship between the symptoms and the enzyme defect remains to be established. Analysis of HGPRT in members of a large kindred with spinocerebellar degeneration revealed normal levels of the enzyme. These observations suggest that a relationship between the activity of HGPRT and clinical ataxia is remote.
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PMID:Ataxia and disorders of purine metabolism: defects in hypoxanthine guanine phosphoribosyl transferase and clinical ataxia. 73 27

A child with Joubert syndrome (episodic hyperpnoea, abnormal eye-movements and ataxia) was followed from birth to eight years of age. Although severe mental retardation was suspected until approximately five years of age, unexpected and exceptional mental capacities were evident at later follow-up. Adequate testing and appropriate stimulation of children with such a severe early motor disorder are difficult, so they may give a false impression of mental retardation. The history of this child challenges the notion that mental retardation is part of Joubert syndrome.
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PMID:Hidden intelligence of a multiply handicapped child with Joubert syndrome. 231 30

A large family with X-linked mental retardation, originally reported in 1944 by Allan, Herndon, and Dudley, has been reinvestigated. Twenty-nine males have been affected in seven generations. Clinical features include severe mental retardation, dysarthria, ataxia, athetoid movements, muscle hypoplasia, and spastic paraplegia with hyperreflexia, clonus, and Babinski reflexes. The facies appear elongated with normal head circumference, bitemporal narrowing, and large, simple ears. Contractures develop at both small and large joint. Statural growth is normal and macroorchidism does not occur. Longevity is not impaired. High-resolution chromosomes, serum creatine kinase, and amino acids are normal. This condition, termed the Allan-Herndon syndrome, appears distinct from other X-linked disorders having mental retardation, muscle hypoplasia, and spastic paraplegia.
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PMID:Allan-Herndon syndrome. I. Clinical studies. 203 42

Diagnostic criteria for Rett syndrome (RS) were developed by representatives of the International Rett Syndrome Association and the Centers for Disease Control for use in future clinical and epidemiological studies. Necessary criteria are: normal prenatal and perinatal period; normal psychomotor development through the first 6 months of life; normal head circumference at birth, with subsequent deceleration of head growth; loss of purposeful hand skills; severely impaired expressive and receptive language; apparent severe mental retardation; and gait apraxia and truncal apraxia/ataxia. Supportive criteria include breathing dysfunction, seizures, spasticity, scoliosis, and growth retardation. The diagnosis of RS is considered tentative until 2 to 5 years of age. The differential diagnosis includes other disorders associated with mental retardation, cerebral palsy, and seizure disorders. These diagnostic criteria for RS should foster reliable communication among investigators and enhance the epidemiological and clinical research of this important disorder.
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PMID:Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group. 245 7

Ten children (age 2 months to 8 years) with a congenital cytomegalovirus (CMV) infection were studied by magnetic resonance imaging (MRI) using a 2.35 Tesla magnet. CMV infection was confirmed by serological investigations and virus culture in the neonatal period. Nine children had severe mental retardation and cerebral palsy, 1 patient suffered from microcephaly, ataxia and deafness. The cranial MRI examination showed the following abnormalities (N): dilated lateral ventricles (10) and subarachnoid space (8), oligo/pachygyria (8), delayed/pathological myelination (7), paraventricular cysts (6), intracerebral calcification (1). This lack of sensitivity for calcification is explainable by the basic principles of MRI. The paraventricular cystic lesions were adjacent to the occipital horns of the lateral ventricles and separated only by a thin membrane. This finding might represent a "new sign" for congenital CMV infection in MRI examinations, being characteristic but nevertheless nonspecific, like calcification in CT.
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PMID:Magnetic resonance imaging of the brain in congenital cytomegalovirus infection. 253 44

Two unrelated females, age 15 and 5 years respectively, were studied cytogenetically because of severe mental retardation, seizures and ataxia-like incoordination. A similar deletion of the proximal long arm of chromosome 15 was found in both patients. Re-evaluation showed no voracious appetite or obesity; normal size of hands and feet, minimal to no hypotonia by history or examination and facial features not typical of the Prader-Willi syndrome. However, the facial appearance of the girls was similar to each other with mild hypertelorism. The similarity of these girls and dissimilarity to Prader-Willi syndrome suggest a different syndrome, perhaps the result of deletion of a different segment of 15q. The findings of ataxic-like movements, frequent, unprovoked and prolonged bouts of laughter and facial appearance are more compatible with the diagnosis of Angelman syndrome.
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PMID:Is Angelman syndrome an alternate result of del(15)(q11q13)? 368 21

The case of a childhood form of Huntington's disease in a 9-year-old boy is reported. The patient had complaints of generalized convulsions from the age of 4, and progressive motor disabilities and mental deterioration from the age of 6. His father had suffered from Huntington's disease for 10 years, and his paternal uncle and aunt, who died at the age of 52, were diagnosed as having this disease. Neurological examination revealed severe mental retardation and marked pyramidal signs. He has no signs or symptoms of involuntary movement, muscular rigidity or ataxia. Axial computed tomography showed marked dilatation of the frontal horns and suggested caudate atrophy. This case is atypical of a childhood form of Huntington's disease because of the lack of muscular rigidity and choreiform movement. But computed tomographic findings correspond to that typically seen in cases of adult Huntington's disease.
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PMID:A childhood form of Huntington's disease associated with marked pyramidal signs. 623 14

The authors studied the main clinical and genetic aspects of congenital cerebellar ataxia in children, from the data obtained in 121 cases. The case reports were divided into 2 groups, according to the severity of the static ataxia. In the absence of absolute criteria allowing the recognition of the various forms of congenital cerebellar ataxia, they give the following genetic counsel: in cases with congenital cerebellar ataxia of unknown origin, the risk or recurrence is higher in cases with severe static ataxia (near 25%) but not negligible in the other types of ataxia, especially in cases associated with severe mental retardation (risk between 5 and 10%).
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PMID:[Non-progressive congenital cerebellar ataxia]. 653 57

The authors describe 7 new cases of Angelman syndrome (AS: 3 males and 4 females) diagnosed on the basis of clinical features (dysmorphic facial features, severe mental retardation with absent speech, peculiar jerky movements, ataxic gait and paroxysms of inappropriate laughter) and neurophysiological findings. Failure to detect deletion of the long arm of chromosome 15 or the absence of epileptic seizure were not considered sufficient to exclude a diagnosis of AS. Feeding problems, developmental delay and early signs of ataxia, especially tremor on handling objects and unstable posture when seated, proved effective as clinical markers for early diagnosis of AS. The EEG patterns characteristic of AS were found within the first 2 years of life (under 18 months in the majority of cases). The authors conclude that AS should be included in differential diagnosis in a child aged under 12 months having cryptogenic psychomotor retardation with prevalent language compromise. Repeat EEG recordings are needed to check for the typical trace, and cytogenetic investigations are mandatory.
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PMID:Electroclinical diagnosis of Angelman syndrome: a study of 7 cases. 776 67

The Angelman syndrome is a neurological disorder characterized by constant features: severe mental retardation, easily provoked laughter, ataxia, absent speech, seizures. Most cases are sporadic but familial cases have been reported. About 60 to 70% of cases are due to an interstitial deletion on the maternally inherited chromosome 15 in the region q11-q13. Rare cases result from paternal disomy. In 30% of patients, neither maternal by inherited deletion, nor paternal disomy, can be found. In this category of patients recurrence risk for sibs is high and molecular mechanisms are not completely known. They appear to be more complex than previously suggested. It is clear that this syndrome is a genetically heterogeneous group. The main example of genomic imprinting in human pathology, Angelman syndrome is now a model in research for understanding molecular mechanisms underlying imprinting.
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PMID:[Angelman syndrome]. 784 99


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