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)

We report two patients, 73- and 70-year-old men, characterized by progressive hemiparesis and homolateral limb ataxia as the main clinical symptoms; magnetic resonance (MR) imaging of the brain revealed asymmetric cerebral cortical and peduncular atrophy; 99mTc-ECD single photon emission computed tomography (SPECT) of brain showed decreased RI uptake in the cerebral hemisphere correlated with clinical deficits. Brain SPECT of case 1 showed decreased RI uptake in the cortex of the right hemisphere and the left cerebellar hemisphere ("crossed cerebellar diaschisis; CCD"). These findings indicate that ataxia of our patients may depend on the lesions of the corticopontocerebellar tracts, although it is possible that ataxia may be related to lack of spatial orientation associated with parietal lobe lesion. The mechanism of the occurrence of asymmetric cerebral peduncular atrophy would be explained by wallerian degeneration of the pyramidal tract and other cortically originated fibers associated with the cortical degeneration. From these clinical and radiologic features, it seems likely that our two patients are categorized in the "asymmetric cortical degeneration syndromes", and we propose the term "progressive ataxic hemiparesis" for our patients.
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PMID:[Progressive ataxic hemiparesis with asymmetric cortical and cerebral peduncular atrophy--report of two cases]. 893 98

A 19-year-old man developed progressive unsteady gait and speech disturbance two years ago. He recently noticed muscle twitches in the left limb. Neurological examination revealed scanning speech, saccadic ocular movement, ataxia of trunk and limbs predominant on the left side. Rhythmic myoclonus was present at rest around the left shoulder and arm, and amplified by raising the left arm. There was no myoclonus in the soft palate. MRI revealed only a cerebellar atrophy. This patient was diagnosed as having cortical cerebellar atrophy with rhythmic skeletal myoclonus (RSM). Tc-99m ECD SPECT showed a decrease in the blood flow of the right thalamus when the myoclonus was enhanced by raising the left upper limb, which suggests that the cerebello-thalamo-cortical system as well as Guillain-McIlaret triangle is involved in the development of RSM.
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PMID:[A case of early-onset cortical cerebellar atrophy with rhythmic skeletal myoclonus in the left upper limb]. 991 23

A 65-year-old woman was seen in our clinic because of a 4-year history of slowly progressive left hand clumsiness and left limping. Neurologically, she had left-side spastic hemiparasis including her tongue, hand clumsiness, limb ataxia, constructional apraxia, and memory impairment. Dementia, parkinsonism and lower motor neuron sign were not confirmed. MRI study showed diffuse cerebral atrophy and shrinkage of the right cerebral peduncle and pontine base. SPECT (99mTc-ECD) study revealed hypoperfusion of the right fronto-parietal cortex. This is a rare case presented with slowly progressive left-side spastic hemiparasis, mimicking Mills' syndrome. In addition this case had other cortical signs, such as ipsilateral hand clumsiness, limb ataxia, constructional apraxia. Neuroimaging study suspects that the right front-parietal cortex is the primary lesion. Etiologically atypical motor neuron disease with adjacent cortical involvement is suspected rather than corticobasal degeneration with severe unilateral pyramidal tract degeneration.
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PMID:[A case of slowly progressive unilateral spastic hemiparasis, hand clumsiness, limb ataxia and constructional apraxia]. 1247 88

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease caused by a deficiency of the mitochondrial enzyme 27-sterol hydroxylase (CYP27). We report a 53-year-old man, with an unusual phenotype of CTX. He had xanthomas since adolescence. He had no mental retardation and developed at 44 years a progressive neuropsychiatric phenotype, suggestive of fronto-temporal dementia according to clinical Neary criteria. Cataract and ataxia were absent. Cerebral MRI revealed diffuse hyperintense T2 abnormalities in the supratentorial white matter without cerebellar atrophy or lesions, while Technetium-99m-ECD brain SPECT revealed a severe cerebellar hypoperfusion. Serum cholestanol level was elevated with excessive urinary bile alcohols excretion. Mutation analysis revealed that he was compound heterozygous for two mutations in the CYP27A1 gene: 1016 C > T (exon 5) on one allele and a novel mutation, 1435C > G (exon 8) on the other allele. A follow-up study was conducted to evaluate the effects of chenodeoxycholic acid (CDCA) and simvastatin treatment during 3 years. In spite of this treatment, cognitive functions declined but no other signs of neurological deterioration appeared.
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PMID:Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype. 1627 84

A 47-year-old man was admitted to the hospital because of general convulsion, loss of consciousness and hyperthermia. A diagnosis of acute heat stroke was made clinically and neuroradiologically. As the consciousness level ameliorated, he developed severe abulia and mutism, then cerebellar ataxic syndrome (viz. truncal ataxia, hypermetria, ataxic speech and nystagmus). An MRI (diffusion weighted image; DWI) disclosed abnormal diffuse high signal intensity of the cerebellar cortex with reduced apparent diffusion coefficient (ADC). Two months later after the onset, truncal ataxia and dysarthria significantly improved, while dysmetria of the extremities rather worsened. At that time, the abnormal signal intensity of the cerebellar cortex disappeared, and the cerebellum became atrophic. The cerebellar blood flow was significantly decreased on brain SPECT (99mTc-ECD). The abnormal DWI signal intensity of the cerebellar cortex in the present patient may represent the cytotoxic edema of Purkinje cells resulting from heat stroke-related hyperthermia It is essential to repeat MRI examination for cerebellar pathology and to obtain better insight into sequelae in patients with acute heat stroke. Protirelin tartrate seemed to be valid for improvement of abulia in the present patient. Further study is indicated.
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PMID:[An acute severe heat stroke patient showing abnormal diffuse high intensity of the cerebellar cortex in diffusion weighted image: a case report]. 1999 44

Little is known about the neurobiological substrate of developmental coordination disorder (DCD), a neuro-developmental syndrome with significant, negative impact on the motor, cognitive and affective level throughout lifespan. This paper reports the clinical, neurocognitive and neuroradiological findings of a 19-year-old patient with typical DCD. As demonstrated by mild ataxia and a close semiological correspondence with the recently acknowledged 'cerebellar cognitive affective syndrome', clinical and neurocognitive investigations unambiguously indicated functional disruption of the cerebellum. Structural MRI of the brain confirmed cerebellar involvement revealing a slight anterior/superior asymmetry of vermal fissures consistent with rostral vermisdysplasia. Although this abnormality of vermal fissuration is generally considered an incidental neuroradiological finding without any clinical relevance, a potentially subtle impact on the developmental level has never been formally excluded. In addition to a generally decreased perfusion of the cerebellum, a quantified Tc-99m-ECD SPECT disclosed functional suppression of the anatomoclinically suspected supratentorial regions involved in the execution of planned actions, visuo-spatial processing and affective regulation. Based on these findings, it is hypothesised that the cerebellum is crucially implicated in the pathophysiologcial mechanisms of DCD, reflecting disruption of the cerebello-cerebral network involved in the execution of planned actions, visuo-spatial cognition and affective regulation.
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PMID:Developmental coordination disorder: disruption of the cerebello-cerebral network evidenced by SPECT. 2046 88

Isolated hemiataxia after a medullary infarct is rare. We describe a case of isolated hemiataxia after a small infarct localized at the ipsilateral dorsolateral medulla. An 83-year-old man developed acute onset of ataxia in the left arm and in both legs. Speech and extraocular movement were normal, and he did not have any other neurological manifestations. Brain MRI showed a small infarct localized at the left dorsolateral medulla, which involved the inferior cerebellar peduncle. (123)ECD-SPECT showed hypoperfusion in the left cerebellar hemisphere without clear vascular territory. Neuroimaging findings for our patient suggested the involvement of the inferior cerebellar peduncle that projects to the cerebellum in our patient.
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PMID:Isolated Hemiataxia and Cerebellar Diaschisis after a Small Dorsolateral Medullary Infarct. 2084 35