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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two sisters were presented, 16 years old and 12 years old, who showed similar clinical courses. They had had mental retardation since early childhood, and then ataxia began. They suffered from astatic and tonic seizures from early school age, which gradually evolved to intractable epilepsies. Spasticity progressed, and they deteriorated both physically and mentally. They revealed photo-sensitivity; convulsions were induced by the flickering of light. They were attacked by myoclonic seizures as well as choreoathetosis, and became bedridden by the latter part of the elementary school age. There were no fruitful results of any kind from the laboratory examinations for metabolic disorders. EEG showed that the epileptic seizure discharges were induced by photic stimulation; there were frequent 3-4 Hz diffuse spike-and-wave short bursts during waking and sleep periods. MRI findings of the elder sister at the age of 16 revealed remarkable diffuse brain atrophy. Gene analysis showed abnormally enlarged DNA fragments localized on the short arm of chromosome 12. This meant expanded CAG trinucleotide repeats. The younger sister died at the age of 12 years. Autopsy findings revealed degeneration of both dentatorubral and pallidoluysian pathways. There were especially remarkable gliosis and neuronal cell loss in the outer segment of globus pallidus, and moderate neuronal cell loss and typical grumose degeneration in the dentate nucleus. The diagnosis of juvenile-type hereditary dentatorubral-pallidoluysian atrophy was compatible with the pathologic findings. This diagnosis will be made possible before death through the understanding of the clinical symptoms and molecular genetics.
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PMID:[Sisters with early onset hereditary dentatorubral-pallidoluysian atrophy of childhood--DNA analysis and clinicopathological findings]. 853 13

Carbohydrate-deficient glycoprotein syndrome is characterized by mental retardation, ataxia, hepatopathy during infancy, cerebellar hypoplasia, peripheral neuropathy, internal strabismus, growth retardation and stroke-like episodes. Since the description of female siblings with unique clinical and biochemical features by Jaeken (1980) and the discovery of unique isoforms of serum transferrin in the patients by Jaeken (1984), more than 120 patients have been diagnosed. The biochemical marker is asialo- and disialo-transferrin. We have found the first Japanese patients and, through analysing serum glycoproteins from these patients, we was noted that multiple serum glycoproteins contain abnormal fractions, on isoelectric focusing. By analysing the sugar chain of transferrin, we have found that the abnormality is caused by a defect in the transfer of asparagine-N-linked oligosaccharide. Recently, two clinical and biochemical variants have been reported. One, characterized by severe mental retardation, no cerebellar hypoplasia, no peripheral neuropathy, diasirotransferrin dominancy, has proven to have a deficiency of N-acetylglucosaminyltransferase II, by Jaeken (1993).
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PMID:[Carbohydrate-deficient glycoprotein syndrome]. 857 56

Two sisters, ages 23 years and 6 years, respectively, were found to have congenital ataxia, bilateral coloboma, mental retardation and abnormal liver function. Magnetic resonance imaging showed cerebellar vermis hypoplasia in the younger girl and liver biopsy showed hepatic fibrosis in the older sister. This combination of findings suggested a diagnosis of COACH syndrome which is characterized by hypoplasia of cerebellar vermis, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. COACH syndrome is a newly recognized condition. So far, five cases have been reported from three sibships. We report two additional cases from one sibship and suggest that several other cases may already exist in literature that were not recognized as having COACH syndrome. The occurrence of multiple cases in single sibships suggests autosomal recessive inheritance. In addition to previously described findings typical of COACH syndrome, the older of our patients showed progressive renal insufficiency with fibrocystic changes on renal biopsy. Renal function has not been described consistently in previous reports of COACH syndrome but has been abnormal in all cases in which it has been investigated. We suggest that renal insufficiency should be considered a common manifestation of COACH syndrome.
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PMID:Renal insufficiency is a component of COACH syndrome. 866 36

Joubert syndrome was first described in 1969 and 100 cases have been published so far. It includes: partial or complete agenesis of the vermis, episodic hyperpnea, ataxia, a disorder of ocular movement and mental retardation. It is autosomal recessive and there are descriptions of families with involvement of multiple children, both boys and girls. Since dysmorphic signs are not prominent in this syndrome, diagnosis is often delayed. To the best of our knowledge, Joubert syndrome has not been previously described in Israel. We present a family with 3 siblings with this syndrome. Increased awareness will lead to earlier diagnosis, proper developmental treatment, and accurate genetic counseling.
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PMID:[Joubert syndrome]. 868 51

We examined a large family in which an X-linked recessive congenital ataxia manifested in 7 males from three generations. The affected boys first exhibited a marked delay of early developmental motor milestones. A neurological syndrome became evident by 5 to 7 years of age and included cerebellar ataxia, dysarthria, and external ophthalmoplegia; there were no symptoms of mental retardation, spastic paraparesis, or sensory loss. Neuroimaging studies revealed hypoplasia of cerebellar hemispheres and vermis. The disease showed no progression beyond early childhood. The unique heredity and clinical features clearly distinguish this new entity from a variety of previously described familial ataxias. Pairwise linkage analysis and haplotype reconstruction allowed us to map the gene responsible for this disorder to a 38-cM interval on chromosome Xp11.21-q24 flanked by the loci DXS991 and DXS1001. Upon multipoint linkage analysis, the disease gene was determined to be located most likely in the proximal part of chromosome Xq, with the maximal lod score of 4.66 at the locus DXS1059 (Xq23). This is the first example of the genetic mapping of a pure congenital cerebellar hypoplasia syndrome.
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PMID:X-linked nonprogressive congenital cerebellar hypoplasia: clinical description and mapping to chromosome Xq. 868 95

Fifty-five infants who presented bacterial neonatal meningitis were prospectively studied to analyze the frequency and the type of sequelae. All the infants were full term newborns. There were 38 boys and 17 girls; the age of disease onset varied from 3 to 28 days. The causative organism was represented mainly by enterobacteriae. The median time of follow-up was 5 years. The frequency of neurologic sequelae was 63.7%, represented mainly by neuropsychomotor development delay (58.2%), hydrocephaly (45.5%) and convulsions (34.5%). Severe motor abnormalities ocurred in 23.6% of children (quadriplegia, diplegia, hemiparesia and ataxia). Convulsions in the acute phase of the disease and the positive cerebrospinal fluid culture were highly associated to sequelae. The school performance, obtained in 25 children, showed presence of disabilities in 48% of cases, which were significantly associated to mental retardation.
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PMID:[Neonatal bacterial meningitis: prospective study of the long-term outcome of 55 children]. 873 49

Incontinentia pigmenti (IP) is a hereditary syndrome characterized by specific skin lesions occurring mostly during the neonatal period (96% of the cases before 6 weeks of age). These skin lesions have four steps of evolution: inflammatory or erythemato-bullous stage (very often associated with peripheral blood hyper-eosinophilia), proliferative or verruco-lichenoid stage, pigmentary or terminal stage characterized by "fountain" or "firework" features (with a picture of pigmentary incontinence at histological examination), sometimes there is a fourth stage referred to as "involutive". Ocular and neurological involvement is the main determinant in the prognosis. Eye lesions include corneal flecks, cataracts, uveitis or optical atrophy with retrolental fribroplasia. The neurological involvement includes pyramidal syndrome, cerebral ataxia, microcephalia, and mental retardation. The disease has mainly an X-linked dominant transmission and is usually lethal for males. Rare cases are observed in boys, some being associated with Klinefelter syndrome. Research is ongoing to identify the IP gene on the X chromosome. In the family form of IP, the gene has been located on chromosome Xq28, which allows prenatal diagnosis using trophoblast biopsy.
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PMID:[Incontinentia pigmenti]. 878 38

Trinucleotide repeat expansion is increasingly recognized as a cause of neurogenetic diseases. To date, seven diseases have been identified as expanded repeat disorders: the fragile X syndrome of mental retardation both FRAXA and FRAXE loci), myotonic dystrophy, X-linked spinal and bulbar muscular atrophy, Huntington's disease, spinocerebellar ataxia type I, dentatorubral-pallidoluysian atrophy, and Machado-Joseph disease. All are neurologic disorders, affecting one or more regions of the neuraxis. Moreover, five of the seven (the last five above) are progressive neurodegenerative disorders whose strikingly similar mutations suggest a common mechanism of neuronal degeneration. In this article we discuss specific characteristics of each trinucleotide repeat disease, review their shared clinical and genetic features, and address possible molecular mechanisms underlying the neuropathology in each disease. Particular attention is paid to the neurodegenerative diseases, all of which are caused by CAG repeats encoding polyglutamine tracts in the disease gene protein.
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PMID:Trinucleotide repeats in neurogenetic disorders. 883 37

Linkage analysis is described in a family with X-linked mental retardation, ataxia, weakness, floppiness, delayed motor development, absence of deep tendon reflexes, hearing impairment and loss of vision (MIM no. 301835). The disease has a fatal course due to the susceptibility of the patients to infections, especially of the respiratory tract. Clinical signs indicate impairment of the posterior columns, peripheral motor and sensory neurons and the second and eighth cranial nerves and/or their nuclei. The involvement of the posterior columns of the spinal cord is further suggested by the almost complete absence of myelinated fibers therein. We localized the responsible gene(s) to Xq21.33-q24 between DXS1231 and DXS1001 with a maximum lod score of 6.97. The proteolipid protein gene, which codes for two myelin proteins of the central nervous system and is located in this region, was considered as a candidate gene for this disorder. However, no mutations were found in the protein-coding part of this gene.
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PMID:Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood. 888 66

We report on an 18-year-old man with neurosensory hearing loss and his sister with neurosensory hearing loss, ovarian dysgenesis, mental retardation, generalized ataxia of the trunk and limbs, and saccadic dysmetria. A CT scan showed cerebellar hypoplasia. The cardinal manifestations of Perrault syndrome in females are neurosensory hearing loss and ovarian dysgenesis. Other anomalies, including neurologic and skeletal, have been reported in other individuals with Perrault syndrome. We review the neurologic anomalies in previous patients with Perrault syndrome. Neurologic data are available on 14 of 21 girls; 7 of 14 had neurologic abnormalities. The high incidence of neurologic anomalies suggest that ataxia or mental retardation may not be just coincidental findings, but pleiotropic manifestations of Perrault syndrome.
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PMID:Neurologic anomalies of Perrault syndrome. 892 34


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