Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0007758 (cerebellar ataxia)
 3,609 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 59-year-old man developed a staggering and wide based-gait in July 1990. Dysarthria, hearing loss, vexation and disturbance of memory appeared in January 1991. He consulted our clinic in May 1991, and cerebellar ataxia, neurogenic bladder, and cerebellar atrophy on brain CT were noted. Subsequently, he was followed as OPCA. Brain and spinal cord MRI (T2 and proton weighted images) revealed hypointensity on the surface of the Sylvian fissure, cerebellum, brainstem and spinal cord. We diagnosed this case as superficial siderosis because of the clinical course, i.e. cerebellar ataxia, dementia and sensorineural hearing impairment, and specific findings on MRI. We consider this case idiopathic superficial siderosis because the origin of the bleeding source was unknown. IMP-SPECT showed low perfusion in the cerebellum and frontal lobe where hemosiderin was heavily deposited. RI cisternography revealed a disturbance of CSF absorption even after 48 hours. The basic rhythm on EEG was slow alpha band with sporadic theta waves dominantly in the frontal lobe. His central conduction time on ABR and SEP was delayed, OKN was poorly elicited and ETT exhibited a staircase pattern. The physiological results as well as the clinical manifestations of the present case suggest that hemosiderin deposit on the surface of brain and spinal cord caused serious damage to the underlying structures.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of idiopathic superficial siderosis of the central nervous system]. 789 35

The purpose of the present study was to elucidate the influences of nicotine on a patient with spinocerebellar degeneration whose symptoms temporarily exacerbated by cigarette smoking. We have examined the influences of nicotine gum on cerebellar ataxia. Limb ataxia, dysarthria and truncal titubation were maximally aggravated 15 min after nicotine gum chewing, which paralleled blood nicotine level. Specific increased accumulation of 123I-IMP was observed in the cerebellum 15 min after nicotine gum load by 123I-IMP-SPECT. On the other hand, in a control with spinocerebellar degeneration whose symptoms not changed by nicotine gum load, the specific finding on 123I-IMP-SPECT was not detected. These findings suggested a direct effect of nicotine on the cerebellum.
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PMID:[The effects of nicotine on a patient with spinocerebellar degeneration whose symptoms temporarily exacerbated by cigarette smoking]. 825 32

We examined a patient with alternating hemiplegia of childhood (AHC) who had over a 23-year history of AHC to investigate the origin of the neurological deterioration with increasing age. Hemiplegic attacks had occurred consistently at a frequency of a few per week since infancy, and he first experienced attacks of cerebellar ataxia at the age of 23 years. Intellectual impairment, dysarthria, dystonic posturing, and a wide-based gait had been slowly progressive, but they had been stable since he turned twenty. The electromyographic response to transcranial magnetic stimulation was normal between attacks and showed reversible alteration during an attack. MRI revealed slight dilatation of the lateral ventricles, and MR angiography showed normal cerebral blood flow. Proton MR spectroscopy between attacks showed normal peak area ratios for N-acetyl groups, choline-containing compounds, and creatine and phosphocreatine, and it also demonstrated no lactic peak. 123I-IMP SPECT between attacks demonstrated diffuse cerebral hypoperfusion despite no evidence of ischemic change in the above MR study. These results suggest that the slowly progressive neurological deficits are due to the primary underlying pathology rather than the secondary neuronal loss as a result of frequent ischemic attacks.
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PMID:Alternating hemiplegia of childhood: report of a case having a long history. 913 95

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

We followed-up a Japanese man suffering from hereditary spastic paraplegia with a thin corpus callosum (HSP-TCC) by single photon emission computed tomography (SPECT) using 123IN-isopropyl-piodoamphetamine (123I-IMP) over 4 years (25 to 29 years old). Besides the initial symptoms of lower limb spasticity, mental deterioration slightly progressed and upper limb spasticity and slight cerebellar ataxia were developed, during the period. Cranial magnetic resonance imaging (MRI) revealed an extremely thin corpus callosum and medial frontal atrophy, which remained essentially unchanged during the period. 123I-IMP SPECT demonstrated that cerebral blood flow was decreased in the thalamus and the medial frontal, temporal and parietal cortices at the first examination, and that the thalamus showed further reduction but the other involved regions presented essentially no progression during the follow-up period. This is the first report referring to the longitudinal clinical and neuroradiological changes in HSP-TCC.
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PMID:Neurological and neuroradiological progression in hereditary spastic paraplegia with a thin corpus callosum. 1098 81

Several reports have presented patients with subacute cerebellar ataxia (CA) and Lambert-Eaton myasthenic syndrome (LEMS). Some clinical features of those patients have been described in the previous reports, manifestation of subacute CA prior to LEMS or a co-existence of both diseases, a high incidence of malignancy, and less efficacy of the treatment for subacute CA compared with that for LEMS. Cerebellar ataxia in some patients with LEMS has been suggested to be caused by antibodies to P/Q-type voltage-gated calcium channels (VGCCs). We report herein a patient with subacute CA and LEMS. Cerebellar ataxia appeared 15 months after the occurrence of LEMS, and the onset of CA was thought to be due to serum anti-P/Q-type VGCC antibodies. The clinical course of this patient was atypical, as follows: (1) LEMS preceded subacute CA, which developed after intracranial aneurysm surgery, (2) no malignancy was detected when both diseases co-existed, (3) symptoms of LEMS did not progress with the onset of CA, and (4) there was a definite improvement in symptoms of CA and (123)I-IMP SPECT imaging findings after steroid administration. In addition, it is remarkable that LEMS became aggravated in electrophysiologic examinations, in contrast to subacute CA. We suggest that these atypical features of subacute CA and the changes in LEMS may be associated with a balance between the amount of serum anti-P/Q-type VGCC antibodies and the susceptibility of the cerebellum and presynaptic nerve terminals to the antibodies. More cases are needed to investigate the mechanisms involved. The subacute CA and LEMS in this patient have remained comparatively silent after the withdrawal of steroids, and we are continuing to observe her condition.
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PMID:Transient subacute cerebellar ataxia in a patient with Lambert-Eaton myasthenic syndrome after intracranial aneurysm surgery. 1829 72

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

Cerebellar ataxia is most neurological sequelae in heat stroke. Heat stroke with cerebral cortical lesions is very rare. A 39-year-old man was admitted to our hospital because of coma, shock status and hyperthermia on arrival and developed disseminated intravascular coagulation (DIC). Hypotension was transient and all vital signs were resumed to normal within a week. Though normal vital sign, his coma state continued throughout. A diffusion weighted image (DWI) on MRI disclosed abnormal diffuse high intensity in the cerebral and cerebellar cortex without decreased apparent diffusion coefficient (ADC). These cortical changes were supported to the vasogenic edema induced by heat stroke. Four months later after the onset, the abnormal signal intensity in the cerebral and cerebellar cortex disappeared and cortical atrophy with ventricular enlargement developed. Electroencephalogram (EEG) of several times showed no electrical activities. The brain SPECT ((123)I-IMP) disclosed all over decreased blood flow. His vegetative state continued.
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PMID:[A case of heat stroke showing abnormal diffuse high intensity of the cerebral and cerebellar cortices in diffusion weighted image]. 2639 67

We describe a 27-year-old man with mental retardation, symptomatic epilepsy, myopia, and cerebellar ataxia without spontaneous puberty whose brain magnetic resonance imaging showed hypomyelination. He had child-like facial appearance, with thin facial hair. He had no underarm and pubic hairs, and his penis was small. Laboratory tests showed low levels of luteinizing hormone, follicle-stimulating hormone, and testosterone. Brain MRI showed diffuse hypomyelination, atrophy of the cerebellum and brainstem, and hypoplastic corpus callosum. Ictal N-isopropyl-p-(indone-123)-iodoamphetamine single photon emission computed tomography (<sup>123</sup>I-IMP SPECT) revealed hypoperfusion of bilateral frontal cingulate and temporal lobe and cerebellar hemispheres. Homozygous missense mutation c.2350G>A was found in POLR3A and the patient was diagnosed with Pol III-related leukodystrophy, which is a rare disease. We describe the present case in light of the characteristics of the past reports in Japan. (Received April 5, 2016: Accepted June 30, 2016; Published November 1, 2016).
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PMID:[A Case of Pol III-related Leukodystrophy with Homozygous Mutation in POLR3A]. 2785 30

A 77-year-old man with a history of cigarette smoking had suffered from vertigo and depression repeatedly for twelve years. He gradually developed bradykinesia in the past half decade and fell down 3 times in the last half year. On admission, he presented with cerebellar ataxia and bulbar symptoms. Brain MRI showed atrophy in the cerebellum and brainstem. 123I-IMP SPECT showed hypoperfusion bilaterally in the cerebellum. Blood examinations showed various elevated inflammatory values and positive for HLA-B51. Cerebrospinal fluid (CSF) revealed aseptic meningitis and increased IL-6 levels. Therefore, we strongly suspected that he had chronic progressive neuro-Behcet's disease (CPNBD), clinically. Systemic mucocutaneous symptoms appeared 1 month after starting treatments. Pathological findings of his skin biopsy were consistent with Behcet's disease. It should be kept in mind that both positive HLA-B51 and increased CSF IL-6 levels have the possibility of containing important clues in the diagnosis of CPNBD.
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PMID:[A case of chronic progressive neuro-Behcet's disease with cerebellar ataxia and bulbar palsy preceding mucocutaneo-ocular symptoms]. 2938 94


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