Paraneoplastic cerebellar degeneration: successful early detection and treatment of cancer through characterization of the anti-Purkinje cell antibody.
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Paraneoplastic cerebellar degeneration (PCD) is thought to be caused by an autoantibody against both tumor and neuronal tissue. Such autoantibodies are most frequently detected in patients with gynecological or breast cancer, and are designated as anti-Yo. We report here a patient with PCD whose underlying cancer could not be detected despite extensive tumor survey. IgG in her serum and cerebrospinal fluid reacted with the cytoplasm of cerebellar Purkinje cells immunohistochemically. On immunoelectron microscopy, the endoplasmic reticulum and Golgi complex were stained. Her IgG bound to the 58 kD band on immunoblots of cerebellar proteins. A reaction was also observed with the recombinant proteins deduced from the complementary DNA clone encoding a neuronal cell antigen reported by Sakai et al (Ann Neurol 28: 692, 1990). Based on these results, successful early resection of fallopian tube adenocarcinoma was performed. It is crucially important to characterize these PCD related autoantibodies for the early treatment of underlying malignant tumors. (+info)
Cerebellar abiotrophy in a miniature schnauzer.
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A 3.5-month-old miniature schnauzer was presented for signs of progressive cerebellar ataxia. Necropsy revealed cerebellar abiotrophy. This is the first reported case of cerebellar abiotrophy in a purebred miniature schnauzer. (+info)
MR imaging of dural arteriovenous fistulas draining into cerebellar cortical veins.
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BACKGROUND AND PURPOSE: Retrograde leptomeningeal venous drainage (RLVD) in a dural arteriovenous fistula (DAVF) is associated with intracerebral hemorrhage, nonhemorrhagic neurologic deficit, or death, and recognizing the presence of this drainage is important. We investigated the MR findings of DAVFs draining into cerebellar cortical veins and compared these findings with those of conventional angiography. METHODS: The MR and angiographic findings of six patients (five men, one woman; mean age, 73.4 years) with DAVF with RLVD into cerebellar cortical veins were reviewed retrospectively. Signal intensity characteristics, contrast material enhancement, topography of the lesion, and presence of signal voids were evaluated on MR images. Site of the shunt, feeding arteries, and draining veins were evaluated on angiograms. RESULTS: In all patients, MR images showed high signal intensity on T2-weighted images and peripheral enhancement on gadolinium-enhanced T1-weighted images at the inferior aspect of the cerebellar hemisphere. A combination of posterior meningeal and occipital arteries was the most frequent blood supply (83%) for these DAVFs. In all six patients, the inferior hemispheric vein was the primary draining vein. CONCLUSION: The characteristic MR findings of DAVF draining into cerebellar cortical veins represent venous congestive encephalopathy in the territory of the involved cortical vein. (+info)
MR imaging and diffusion-weighted imaging changes in metronidazole (Flagyl)-induced cerebellar toxicity.
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We describe a case demonstrating reversible MR imaging findings, including diffusion-weighted imaging changes in association with metronidazole (Flagyl) toxicity. The diagnosis of metronidazole toxicity was made clinically and supported by the MR imaging findings. Quantitative apparent diffusion coefficient (ADC) maps demonstrated edema with associated increased ADC values within the dentate nuclei of the cerebellum on initial imaging. Follow-up imaging performed 8 weeks after cessation of metronidazole therapy demonstrated resolution of imaging findings, including diffusion changes. (+info)
Lacunar thalamic stroke with pure cerebellar and proprioceptive deficits.
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Case reports of two patients with cerebellar ataxia and proprioceptive sensory loss are presented. MRI of the brain revealed lesions of the ventroposterior part of the thalamus. These patients illustrate clinically the anatomical independence of cerebellar and sensory pathways in the thalamus. We suggest that the ataxic deficit is caused by interruption of cerebellar outflow pathways in the thalamus and not secondary to sensory deafferentation. (+info)
Cerebellar ataxia in the elderly.
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In a retrospective study of 624 elderly patients referred with falls and gait disorders, 45 patients were found to have ataxia. Cerebrovascular diseases were the most common underlying cause of ataxia (15 patients, 37%). Nine patients had hereditary/degenerative cerebellar ataxia. History suggesting alcohol as an underlying cause was established in two patients with cerebellar ataxia. Three patients had normal pressure hydrocephalus and their condition improved remarkably after surgery. No definite cause was found in five patients. Cranial computed tomography (CT) showed cerebral atrophy in 16 patients and in three patients there was evidence of atrophy of the cerebellar vermis. Four patients had femoral neck fractures and three patients had other fractures. In a 5-year follow-up five patients died with bronchopneumonia (11% mortality) and patients with dementia showed rapid deterioration. All patients were referred to the day hospital for rehabilitation. The best treatment outcome was achieved in patients who had a single cerebrovascular accident with no cognitive impairment and in those whose ataxia was secondary to medication. Fourteen patients (44%) moved to residential care while 27 (66%) continued to live in their homes with community support. We concluded that there is no evidence of increased mortality in the elderly patients with cerebellar ataxia. CT scan is mainly helpful in diagnosing specific diseases such as tumours or hydrocephalus. A significant proportion of elderly patients with ataxia may have reversible or treatable conditions and can pursue an independent life. (+info)
Spectrum of centrosome autoantibodies in childhood varicella and post-varicella acute cerebellar ataxia.
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BACKGROUND: Sera from children with post-varicella infections have autoantibodies that react with centrosomes in brain and tissue culture cells. We investigated the sera of children with infections and post-varicella ataxia and related conditions for reactivity to five recombinant centrosome proteins: gammagamma-enolase, pericentrin, ninein, PCM-1, and Mob1. METHODS: Sera from 12 patients with acute post-varicella ataxia, 1 with post-Epstein Barr virus (EBV) ataxia, 5 with uncomplicated varicella infections, and other conditions were tested for reactivity to cryopreserved cerebellum tissue and recombinant centrosome proteins. The distribution of pericentrin in the cerebellum was studied by indirect immunofluorescence (IIF) using rabbit antibodies to the recombinant protein. Antibodies to phospholipids (APL) were detected by ELISA. RESULTS: Eleven of 12 children with post-varicella ataxia, 4/5 children with uncomplicated varicella infections, 1/1 with post-EBV ataxia, 2/2 with ADEM, 1/2 with neuroblastoma and ataxia, and 2/2 with cerebellitis had antibodies directed against 1 or more recombinant centrosome antigens. Antibodies to pericentrin were seen in 5/12 children with post-varicella ataxia but not in any of the other sera tested. IIF demonstrated that pericentrin is located in axons and centrosomes of cerebellar cells. APL were detected in 75% of the sera from children with post-varicella ataxia and 50% of children with varicella without ataxia and in none of the controls. CONCLUSION: This is the first study to show the antigen specificity of anti-centrosome antibodies in children with varicella. Our data suggest that children with post-varicella ataxia have unique autoantibody reactivity to pericentrin. (+info)
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.
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Ataxia with ocular motor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia (ARCA) associated with oculomotor apraxia, hypoalbuminaemia and hypercholesterolaemia. The gene APTX, which encodes aprataxin, has been identified recently. We studied a large series of 158 families with non-Friedreich progressive ARCA. We identified 14 patients (nine families) with five different missense or truncating mutations in the aprataxin gene (W279X, A198V, D267G, W279R, IVS5+1), four of which were new. We determined the relative frequency of AOA1 which is 5%. Mutation carriers underwent detailed neurological, neuropsychological, electrophysiological, oculographic and biological examinations, as well as brain imaging. The mean age at onset was 6.8 +/- 4.8 years (range 2-18 years). Cerebellar ataxia with cerebellar atrophy on MRI and severe axonal sensorimotor neuropathy were present in all patients. In contrast, oculomotor apraxia (86%), hypoalbuminaemia (83%) and hypercholesterolaemia (75%) were variable. Choreic movements were frequent at onset (79%), but disappeared in the course of the disease in most cases. However, a remarkably severe and persistent choreic phenotype was associated with one of the mutations (A198V). Cognitive impairment was always present. Ocular saccade initiation was normal, but their duration was increased by the succession of multiple hypometric saccades that could clinically be confused with 'slow saccades'. We emphasize the phenotypic variability over the course of the disease. Cerebellar ataxia and/or chorea predominate at onset, but later on they are often partially masked by severe neuropathy, which is the most typical symptom in young adults. The presence of chorea, sensorimotor neuropathy, oculomotor anomalies, biological abnormalities, cerebellar atrophy on MRI and absence of the Babinski sign can help to distinguish AOA1 from Friedreich's ataxia on a clinical basis. The frequency of chorea at onset suggests that this diagnosis should also be considered in children with chorea who do not carry the IT15 mutation responsible for Huntington's disease. (+info)