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 a 54-year-old woman who revealed right hemiparesis and ataxia in her right extremities due to a lesion which was suggested to be cavernous hemangioma located in the left side of pons in 1971, and showed remarkable crossed cerebellar atrophy (CCA) by computed tomography and magnetic resonance imaging in 1985 and 1989. Angiography showed no abnormality but made iatrogenic embolism in left thalamus which developed severe pain in her right side. Single-photon-emission-computed-tomography (SPECT) with I123-IMP in 1989 showed reduction of right cerebellar hemispheric blood flow (crossed cerebellar diaschisis: CCD) and left cerebral hemispheric blood flow. Our case was thought to have revealed persisting CCD. Although there are many reports about CCD and CCA following cerebral damage, CCD and CCA due to brain stem lesion has not been described yet. This might be explained by the persisting functional depression of cerebro-ponto-cerebellar pathways at the pons' level by cavernous hemangioma. It was assumed that the left cortical hypometabolism was result from damage to thalamo-cortical pathways due to ipsilateral thalamic lesion.
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PMID:[Crossed cerebellar diaschisis and crossed cerebellar atrophy in a patient with a lesion in brain stem]. 204 4

A 49-year-old man was admitted to our hospital complaining of clumsiness in his left arm and leg that had 2 months' history with subacute onset. On examination he showed left sided ataxia but no other neurological deficits. A linear lesion was demonstrated in the left cerebellar hemisphere by X-ray computed tomography and magnetic resonance imaging without apparent hemorrhage and mass effect. Digital subtraction angiography revealed a venous malformation in the left cerebellar hemisphere but carotid arteries were normal. Relative distribution of cerebral blood flow was measured using single-photon-emission-computed tomography with rotating gamma camera and 123I-IMP. Reduced uptake was observed in the right frontal lobe (-15- -30%). However, the asymmetry disappeared 8 months later. The decreased blood flow in the contralateral cerebral cortex may be due to destruction of cerebello-thalamo-cortical pathways.
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PMID:[A case of cerebellar hemispheric venous malformation presenting crossed cerebello-cerebral diaschisis]. 262 30

A case of a 38-year-old woman with multiple sclerosis (MS) is reported. At 36 years of the age, she was admitted to our hospital because of developing unstable gait and clumsiness in her hands. After intravenous and oral administration of steroid, her neurological symptoms improved gradually. At 38 years of the age, she was readmitted because of recurrence. A neurological examination revealed severe left sided limb ataxia and trunkal ataxia. No abnormal finding was demonstrated in cranial MRI at the first and second admission. Single photon emission computed tomography (SPECT) using 123I-IMP that was performed at the second admission showed an increased accumulation of 123I-IMP in the left cerebellar hemisphere on the 14th day from the neurological onset. After the therapy of steroid, her neurological signs improved and SPECT showed no abnormality on the 62nd day. Seven months after the second episode, she was readmitted because of the same neurological symptoms and T2 weighted MRI revealed multiple high intensity area in the pons and midbrain. She was diagnosed as having definite MS. These findings in SPECT may suggest the inflammatory process of the cerebellum in the case of MS as well as acute cerebellar ataxia.
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PMID:[A case of multiple sclerosis with abnormal single photon emission computed tomography (SPECT)]. 1039 80

A 72-year-old man with a history of hypertension had a left cerebellar infarction and followed by a right cerebellar infarction within about one and a half months after the initial stroke. Brain magnetic resonance images(MRI) showed infarctions in both middle cerebellar peduncles and in the mid-portion of lower pons. Right veretebral artery(VA) terminated in posterior inferior cerebellar artery(PICA). Left intracranial VA has a high-grade eccentric atherosclerotic stenosis(91%) proximal to the left PICA. No collateral circulation was developed from bilateral carotid arteries. Three months after the final ischemic episode, the patient had remained bed ridden and needed a whole assistance for regular daily life because of severe ataxia of four limbs and truncs and of left hemiparesis. The patient and his family gave us informed written consent, then cerebral angioplasty and stenting(CAS) was performed for the left VA stenosis, which was sufficiently dilated. Iodine-123 iodoamphetamine(123I-IMP) single photo emission computed tomography (SPECT) showed hypoperfusion in both cerebellar hemispheres before CAS. Post CAS 123I-IMP SPECT scans demonstrated improvement of the hypoperfusion in the left cerebellar hemisphere. Ataxia of four limbs, left hemiparesis and his will for physical therapy improved in a short period after the treatment. Ten months later, the left VA had a mild stenosis and patient presented mild truncal ataxia and needed less assistance for regular daily life. The present case indicated that improvement of neurological impairment was expected by the endovascular revascularization even in a chronic stage.
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PMID:[Intracranial vertebral artery stenosis successfully revascularised by cerebral angioplasty and stenting in chronic stage: a case report of prompt improvement of the neurological impairment]. 1079 23

Machado-Joseph disease (MJD) is an autosomal dominant spinocerebellar ataxia. Its clinical features vary greatly in different generations of the same family. Regional cerebral blood flow (rCBF) and distribution volume (Vd) in the pons, cerebellum, and cerebral cortex were measured in 12 patients with MJD by autoradiography (ARG) and the table look-up (TLU) method of iodine-123 IMP (123I-IMP) single photon emission computed tomography (SPECT). Representative cases were as follows: A 46-year-old woman first experienced gait ataxia at age 38. Computed tomography (CT) and magnetic resonance imaging (MRI) showed no atrophy in the pons or cerebellum, but rCBF measured by the 123I-IMP SPECT ARG method detected hypoperfusion in the pons, and cerebellar vermis and hemisphere. A 76-year-old woman first experienced gait ataxia at age 69. CT and MRI findings showed severe atrophy in the pons, and cerebellar vermis and hemisphere. Moreover, rCBF was decreased in the pons, whereas it was not decreased in the cerebellar vermis and hemisphere. In the pons of patients with MJD, rCBF was markedly decreased regardless of disease severity. Because this SPECT finding for the pons looked like a 'dot', we have called it the 'pontine dot sign'. In the MJD group, rCBF was significantly decreased in the pons (Student's t test, p < 0.01) and cerebellar vermis (p < 0.05). The Vd was also significantly decreased in the pons (p < 0.005) in comparison with that for normal subjects. Pearson's correlation analysis yielded a significant relationship between the rCBF in the pons and age at onset (r = 0.578, p < 0.05). There was a strong correlation between the Vd for the pons and age at onset (r = 0.59, p < 0.05). Pearson's correlation analysis also showed a significant relationship between the Vd in the cerebellar hemispheres and International Cooperative Ataxia Rating Scale (r = 0.644, p < 0.05). The pontine rCBFs in patients with early onset MJD, whose pons was not atrophic, decreased more than did those in patients with late onset MJD, whose pons was severely atrophic. This suggests that the SPECT findings are indicative of underlying neurodegenerative processes that began before the onset of clinical symptoms. Different processes seem to function in atrophy and the rCBF decrease in the pons of patients with MJD. These findings will be proved by the increase of the number of cases of MJD. Until now, there has been no report on rCBF and Vd obtained by 123I-IMP SPECT for patients with MJD identified by gene analysis. Our study shows that SPECT measurement of rCBF and Vd is useful for understanding the pathophysiology of MJD.
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PMID:[Analysis of regional cerebral blood flow and distribution volume in Machado-Joseph disease by iodine-123I IMP single photon emission computed tomography]. 1196 40

We report an adult case of acute cerebellitis associated with influenza A. A 25-year-old woman with fever and headache was diagnosed as having influenza A infection, because nasal swab extract was found positive in the influenza assay. She was treated with oseltamivir. After the treatment, she gradually developed gait and speech disturbance. Neurological examination revealed dysarthria with scanning slurred speech, and limb and truncal ataxia. Cerebrospinal fluid showed pleocytosis and a four-fold or greater change in the antibody titer to influenza virus A (H3N2) detected by HI. T2-weighted brain MRI demonstrated a high signal lesion in the cerebellar cortex. 123I-IMP-SPECT showed hypoperfusion in the cerebellum. Thus, acute cerebellitis associated with influenza A infection was diagnosed. Her symptoms partially improved after steroid pulse therapy, whereas the cerebellar cortical lesion observed on MRI, truncal ataxia and cerebrospinal fluid pleocytosis remained. The cerebellar cortical lesion observed on MRI disappeared 80 days after hospitalization, and the truncal ataxia and cerebrospinal fluid pleocytosis had normalized about three months later.
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PMID:[An adult case of acute cerebellitis after influenza A infection with a cerebellar corical lesion on MRI]. 1706 3

A 26-year-old woman with primary amenorrhea in association with hypergonadotropinism, and lacking a vagina and uterus, suffered from a gradually progressive gait disturbance in her adolescence. The patient has no family history of ataxia and a chromosome study showed a normal karyotype (46,XX). Using the revised Hasegawa Dementia Scale, her cognitive function was measured as that of a normal adult, however, neurological examination revealed symptoms of scanning speech, horizontal gaze-evoked nystagmus, and ataxia. Bulging eyes, high-arched palate, scoliosis and ventricular septal defect were also observed. A brain MRI showed atrophy of the cerebellum. A 123I-IMP brain SPECT study showed hypoperfusion in the cerebellum. Previous studies show that among patients with cerebellar ataxia and hypergonadotropic hypogonadism, some show an autosomal recessive inheritance, while others have no family history. As a cause, a chromosomal abnormality is unlikely because all reported karyotypes were normal. This case is different from other reported cases in that she is not mentally impaired or deaf. The present case indicates that there is a close relationship between cerebellar ataxia and hypogonadism, and that other symptoms such as deafness and mental impairment could be an additional variable in patients with cerebellar ataxia arid hypergonadotropic hypogonadism.
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PMID:[A woman with cerebellar ataxia and hypergonadotropic hypogonadism]. 2012 Mar 50

A 38-year-old woman with Wilson's disease developed neurological deterioration after 25 years of low-dose penicillamine administration. She showed an akinetic-rigid syndrome and cerebellar motor ataxia. Brain MRI showed increased signal intensity at the bilateral pons, midbrain, putamen, and thalamus. 123I-IMP-SPECT revealed a diffuse reduction of cerebral blood flow at the bilateral cerebral hemisphere including the basal ganglia. After the patient's regimen was changed to zinc therapy, her neurological condition gradually improved, and she showed almost complete recovery within two years. Serial MRI and SPECT studies showed a marked improvement in the lesions.
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PMID:Resolution of cranial MRI and SPECT abnormalities in a patient with Wilson's disease following oral zinc monotherapy. 2279 Jan 41

A 40-year-old man was referred to our hospital because of vertical supranuclear gaze palsy, frequent sudden loss of muscle tonus and ataxia for several years. He had a history of prolonged neonatal jaundice. He was given a diagnosis of autism in his childhood, followed by a diagnosis of schizophrenia in his teenage. He also developed a savant skill of calendar calculating. (123)I-IMP-SPECT showed decreased cerebral blood flow in the left frontotemporal lobe as often seen in savant syndrome. Although genetic analysis of NPC1 and NPC2 revealed no pathogenic mutation, filipin staining of cultured fibroblasts from his biopsied skin revealed a certain amount of intracellular cholesterol storage pattern, indicating a variant biochemical phenotype of Niemann-Pick disease type C (NPC). The diagnosis of adulthood onset NPC is difficult and challenging, especially for neurologists, because the symptoms and signs are not as clear as those in the classical childhood onset NPC and this subtype is not yet widely known. However, the diagnosis can be made by a combination of filipin staining of fibroblast and/or gene analysis. As a disease-specific therapy for NPC has been approved in Japan, the diagnosis of NPC is of significance.
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PMID:A case of variant biochemical phenotype of Niemann-Pick disease type C accompanying savant syndrome. 2718 47

A 16-year-old healthy male experienced gastrointestinal symptoms and 9 days later developed fever, headache, numbness of the left hand, and disturbance of consciousness with rapid deterioration to a comatose state. These clinical symptoms resolved after treatment with steroid pulse, plasma exchange, and intravenous immunoglobulin. Along with the recovery, ophthalmoplegia and ataxia were observed. These symptoms and the detection of a high titer of serum anti-GQ1b immunoglobulin G autoantibodies led to the diagnosis of Bickerstaff's brainstem encephalitis (BBE). Brain 123I-IMP SPECT indicated hypoperfusion of the brainstem and bilateral cerebellar cortex during the acute phase, which increased during the recovery phase. This finding is indicative of reversible dysfunction in the cerebellar cortex and brainstem in the acute phase of BBE.
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PMID:[Cerebellar and brainstem hypoperfusion in Bickerstaff's brainstem encephalitis: a case report]. 3027 Mar 34


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