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

Necropsy findings are reported for a case of Joubert syndrome (familiar aplasia of cerebellar vermis with episodic hyperpnea, abnormal eye-movements, ataxia and retardation). The findings consisted of an almost total aplasia of the cerebellar vermis; dysplasias and numerous heterotopias of cerebellar nuclei; an almost total absence of pyramidal decussation; and anomalies in the structure of the inferior olivary nuclei, the descending trigeminal tract, solitary fascicle and of the dorsal column nuclei. The lesion resembled the Dandy-Walker malformation or simple aplasia of the cerebellar vermis in some of its aspects, but there were numerous others to set it apart--at least tentatively--as a distinct nosologic entity.
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PMID:Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome. 72 29

We report a new case of pathologically documented Joubert syndrome. A review of 35 published cases showed that this syndrome, first described by Joubert and Eisenring in 1969, is well individualized and exhibits consistent features, including attacks of tachypnea alternating with respiratory pauses, abnormal ocular movements, severe psychomotor retardation, and ataxia. Anatomic anomalies include vermian agenesis with cystic dilatation of the fourth ventricle. Inheritance of this condition is autosomal and recessive. Onset is in the neonatal period and prognosis is severe. Significant anatomic resemblances with the Dandy-Walker syndrome exist, although genetic and clinical features are different. The origin of this syndrome is unknown, but a study of peroxisomes is required since three cases of Joubert syndrome with pipecolic acidemia have been reported and resemblances exist between some recognized peroxisomal diseases and Joubert syndrome.
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PMID:[Joubert's syndrome]. 219 May 21

Clinico-radiologic correlations, using CT, were studied in 29 patients with ataxic cerebral palsy. The scans were normal or only slightly abnormal in 38%, posterior fossa abnormalities occurred in 28%, and 55% had obvious cerebral abnormalities which always involved the parietal lobes. There were only two cases where the changes were confined to the posterior fossa. Hydrocephalus was present in four, and there was one case of a Dandy-Walker malformation. An absolute association with any clinical subtype was unusual. All cases of simple ataxia had an obviously abnormal scan, but the changes were widespread. Where dysequilibrium was present the scans were either normal or showed widespread change. Only 25% involved the vermis. Although there was some association between hydrocephalus and ataxic diplegia, the majority of this subtype had a normal or only slightly abnormal scan. Most were hypotonic docile infants with delayed speech and motor skills, particularly those with posterior fossa abnormality. Although CT did not predict development well, those with lower IQ's were more likely to have obvious CT change. Where obvious supratentorial change was present, 75% had a history of epilepsy. In ataxic cerebral palsy CT findings are common, but variable. CT change correlates better with IQ and epilepsy than clinical subtype.
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PMID:Ataxic cerebral palsy--clinico-radiologic correlations. 273 80

Six dogs with cerebellar dysplasia, in which the cerebellar vermis was hypoplastic, are described. Clinical signs in these dogs were noted around 2 weeks of age and included ataxia, dysmetria, and intention tremors. A variable portion of the caudal cerebellar vermis was absent in each dog; portions of the cerebellar hemispheres and flocculus also were absent in some of them. Neurons in certain brain stem nuclei that project to the cerebellum were either chromatolytic or vacuolated. Cerebellar vermian hypoplasia of dogs is analogous to the Dandy-Walker syndrome of human beings.
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PMID:Cerebellar vermian hypoplasia in dogs. 375 Jul 31

MR imaging depicted vertically oriented folia instead of the normal horizontal folial pattern, hypoplastic cerebellar vermis, fusion of the inferior posterior cerebellum, and probable polymicrogyria in the superior cerebellar hemispheres in a child with hypotonia, nystagmus, ataxia, and psychomotor retardation. We propose that this newly discovered cerebellar malformation be added to the list of malformations associated with aplasia or hypoplasia of the cerebellar vermis, such as Dandy-Walker malformation, Joubert syndrome, tectocerebellar dysraphia, and rhombencephalosynapsis.
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PMID:Partial midline fusion of the cerebellar hemispheres with vertical folia: a new cerebellar malformation? 1044 61

Joubert syndrome is an autosomal-recessive disorder characterized by cerebellar hypoplasia, hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements. The biochemical and genetic basis of Joubert syndrome is unknown and a specific chromosomal locus for this disorder has not been identified. Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci. We have ascertained previously a cohort of 50 patients with a putative diagnosis of Joubert syndrome in order to evaluate the presence of associated malformations, and to initiate studies leading to the identification of genes causing Joubert and related syndromes. Among the associated malformations found in patients ascertained as having Joubert syndrome, 8% of patients had polydactyly, 4% had ocular colobomas, 2% had renal cysts, and 2% had soft-tissue tumors of the tongue. The WNT1 gene has been tested as a candidate gene for Joubert syndrome based on its expression in the developing cerebellum and an associated mutation in the swaying mouse. A search for mutations in WNT1 in a series of patients with Joubert syndrome did not detect mutations at this locus. This analysis suggested that mutations in WNT1 might not have a significant role in Joubert syndrome, and other functional candidate genes related to development of the cerebellum need to be examined. A genome-wide linkage analysis carried out in 10 Joubert syndrome pedigrees did not identify a specific chromosomal locus for this disorder. This observation, along with those from clinical studies, provides further evidence that Joubert and related syndromes are genetically heterogeneous.
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PMID:Clinical nosologic and genetic aspects of Joubert and related syndromes. 1051 39

Adult presentation of the Dandy-Walker syndrome is extremely rare. We report a case where the patient was first diagnosed at 75 years of age because of sudden onset of unilateral senorineural deafness and episodic vertigo. He remained well for a further three years until developing the more classical adult presenting features of cognitive impairment, disordered gait and ataxia. The radiological and otological investigative findings are discussed, together with their implications.
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PMID:Old age presentation of the Dandy-Walker syndrome associated with unilateral sudden sensorineural deafness and vertigo. 1182 88

While prognostic information for Dandy-Walker syndrome and non-progressive cerebellar ataxia/cerebellar hypoplasia is available, surprisingly scant literature reports are found for space-occupying posterior fossa arachnoid cysts (PFAC). We describe the outcome of patients with symptomatic PFAC shunted as infants. Only 11 children were seen over a 20-year period (1980-1999). Cyst location was retrocerebellar (n = 8), supravermian (n = 2) and in the cerebellopontine angle (n = 1). Motor and cognitive impairments in one child were interpreted as the result of neurosurgical complications (intraventricular and intracerebral haemorrhage). One 6-year-old boy had mild truncal ataxia and mild cognitive delay. The 9 other patients had no evidence of ataxia or clumsiness and had average, some even above average, cognitive ability and scholastic achievements. Epilepsy was not a feature. We conclude that the prognosis of PFAC for cognitive development and neurological signs is favourable.
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PMID:Outcome in children with space-occupying posterior fossa arachnoid cysts. 1220 Jul 40

A 19-year-old man was admitted to our hospital for delayed puberty. At birth, he had macrocephalia and showed delayed physical and mental development. At 9 years of age, right cryptorchism was diagnosed. His parents had noticed that he could not recognize any smells since his infancy. Physical examination on admission revealed ocular hypertelorism, high myopia, high arched palate, and intermittent external strabismus. Sense of smell was scaled out by olfactometry. External genitalia were infantile. Neurological examination showed on IQ of 83, and mild truncal ataxia. Magnetic resonance imaging (MRI) showed a cystic distension of the IV ventricle, partial aplasia of the cerebellar vermis, elevation of the tentorium cerebelli, enlargement of the III ventricle, and agenesis of the corpus callosum. These findings revealed that the patient had Dandy-Walker malformation. The basal FSH, LH, and testosterone levels were all low compared with normal adult reference values. The serial LH-RH provocation tests showed stepwise LH and FSH elevation. After the fifth day of LH-RH administration, both LH and FSH responses clearly improved. Olfactory tracts were defective in MRI findings. These findings were consistent with hypogonadotropic hypogonadism of hypothalamic origin with anosmia, and the patient was therefore diagnosed with Kallmann syndrome. Sequence analysis of the KAL1 gene showed no mutation in the coding region. To our knowledge, this is the first case report of the coexistence of Kallmann syndrome and Dandy-Walker malformation in the same patient.
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PMID:A case of Kallmann syndrome associated with Dandy-Walker malformation. 1475 74

Mice homozygous for the dreher (dr) mutation are characterized by pigmentation and skeletal abnormalities and striking behavioral phenotypes, including ataxia, vestibular deficits, and hyperactivity. The ataxia is associated with a cerebellar malformation that is remarkably similar to human Dandy-Walker malformation. Previously, positional cloning identified mutations in LIM homeobox transcription factor 1 alpha gene (Lmx1a) in three dr alleles. Two of these alleles, however, are extinct and unavailable for further analysis. In this article we report a new spontaneous dr allele and describe the Lmx1a mutations in this and six additional dr alleles. Strikingly, deletion null, missense, and frameshift mutations in these alleles all cause similar cerebellar malformations, suggesting that all dr mutations analyzed to date are null alleles.
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PMID:Molecular definition of an allelic series of mutations disrupting the mouse Lmx1a (dreher) gene. 1701 51


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