1/78. Serous adenocarcinoma of the uterus presenting as paraneoplastic cerebellar degeneration.paraneoplastic cerebellar degeneration is a rare complication of cancer and is most frequently associated with lung, ovary, and breast cancers as well as Hodgkins lymphoma. A 74-year-old female with a past history of breast cancer presented with vomiting, ataxia, slurred speech, and dizziness. Her serum chemistry, thyroid and liver function tests, acetylcholine antibodies, serum cortisol, CT, and MRI imaging were all normal. serum testing for anti-YO antibodies was positive. Further evaluation including CT of the abdomen and pelvis revealed endometrial thickening. Subsequently, an endometrial biopsy showed a poorly differentiated serous adenocarcinoma. Surgical staging was consistent with a stage IIIc serous adenocarcinoma of the uterus. The risk factors, symptoms, signs, differential diagnosis, and clinical and antibody associations of the paraneoplastic cerebellar degeneration syndrome are reviewed. In addition, an efficient approach to the diagnostic evaluation of such patients is proposed.- - - - - - - - - - ranking = 1keywords = cerebellar degeneration, degeneration, paraneoplastic (Clic here for more details about this article) |
2/78. Branched-chain amino acid therapy for spinocerebellar degeneration: a pilot clinical crossover trial.OBJECT: The potential effects of branched-chain amino acids (BCAAs) on spinocerebellar degeneration (SCD) were explored in eleven patients. methods: The patients received 200 ml of BCAA-rich solution, 2 mg of thyrotropin-releasing hormone (TRH; protirelin), or a placebo daily for 7 days each in a random order. An SCD score was used to quantify the severity of symptoms. patients: Eleven patients with SCD (7 male, 4 female; mean age 60 /-11; mean disease duration 5.5 years) participated in this study. RESULTS: The mean SCD score of the eleven patients improved significantly by the BCAA treatment compared with the baseline. The conditions of five of the eleven patients (45%) were clearly improved by the BCAA treatment. All of the responders manifested predominantly cerebellar symptoms, but no prominent parkinsonian symptoms. Two patients with marked rigidity and akinesia did not respond to the treatment. CONCLUSION: We concluded that BCAAs do have a beneficial effect on functional improvement in patients with SCD, and that further large scale studies are needed.- - - - - - - - - - ranking = 0.83308914212533keywords = cerebellar degeneration, degeneration (Clic here for more details about this article) |
3/78. X-linked adrenoleukodystrophy: spinocerebellar variant.The phenotypic variability in X-linked adrenoleukodystrophy (X-ALD) can be wide and varied. Rarely, it can present with clinical signs of spinocerebellar degeneration. There are very few reported cases of selective predominant white matter disease of the cerebellum in these patients. We report a patient with a rare variant of adult onset ALD who was previously diagnosed as spinocerebellar ataxia. He was a 24-year-old male who had delayed developmental milestones, developed signs of spinocerebellar degeneration (SCD) after 10 years of Addison's disease. Serial magnetic resonance imaging (MRI), revealed cerebellar and pontine white matter disease but sparing the cerebral cortex and supratentorial white matter. His diagnosis of X-ALD was subsequently confirmed by the elevated serum very long chain fatty acids. This patient illustrates the unusual clinical presentation and imaging features of X-ALD and the importance of considering X-ALD in the clinical context of spinocerebellar degeneration. Early recognition of this rare variant would allow proper genetic counselling and institution of dietary therapy and/or bone marrow transplantation.- - - - - - - - - - ranking = 0.4998534852752keywords = cerebellar degeneration, degeneration (Clic here for more details about this article) |
4/78. Double simultaneous cysts of the mediastinum.We describe a rare case of double mediastinal tumors in a 60-year-old male with spinocerebellar degeneration. magnetic resonance imaging (MRI) accidentally revealed double cystic tumors in the anterior and posterior mediastinum. Surgical management by video-assisted thoracic surgery (VATS) was successfully performed. The histological diagnoses were confirmed as a thymic cyst in the anterior and a thoracic duct cyst in the posterior mediastinum, respectively.- - - - - - - - - - ranking = 0.16661782842507keywords = cerebellar degeneration, degeneration (Clic here for more details about this article) |
5/78. macular degeneration associated with aberrant expansion of trinucleotide repeat of the SCA7 gene in 2 Japanese families.OBJECTIVE: To evaluate the macular function of Japanese patients with a trinucleotide repeat expansion in the spinocerebellar ataxia type 7 (SCA7) gene. methods: Ophthalmic findings in patients whose dna analysis revealed expanded alleles of the trinucleotide repeat in the SCA7 gene were evaluated. RESULTS: Trinucleotide repeat was expanded from 40 to 48 in affected patients (control subjects, 12 repeats). Affected patients were characterized by different degrees of visual acuity decrease (0.09-0.9), a tritan axis color vision, a coarse granular appearance of the macular region on scanning laser ophthalmoscopy, depression of multifocal electroretinograms, and macular degeneration. However, pigmentary changes were not observed in the retina. The trinucleotide repeat was longer and the onset of macular dysfunction was earlier in the younger generation. One patient in a family manifested decreased visual acuity 10 years preceding other neurologic signs. CONCLUSIONS AND CLINICAL RELEVANCE: patients with SCA7 mutations showed macular dysfunction or degeneration with expansion of CAG repeat in the SCA7 gene. However, the lesions were less pigmented than those previously reported. patients also showed ophthalmologic anticipation, which has not been reported for the ocular changes in other patients who have trinucleotide repeat expansion of the responsible genes.- - - - - - - - - - ranking = 0.037619320315386keywords = degeneration (Clic here for more details about this article) |
6/78. Focal degenerative dementia syndromes.Focal degenerative dementia syndromes are associated with a characteristic clinical picture, such as frontotemporal dementia, primary progressive aphasia, semantic dementia, corticobasal degeneration, and the Balint syndrome. A lobar approach may be used to classify the degenerative dementias. The underlying pathology of these various syndromes seems to be less heterogeneous than previously thought.- - - - - - - - - - ranking = 0.0062698867192311keywords = degeneration (Clic here for more details about this article) |
7/78. Ataxia associated with Hashimoto's disease: progressive non-familial adult onset cerebellar degeneration with autoimmune thyroiditis.Acquired cerebellar ataxia has been described with hypothyroidism, and is typically reversible by thyroid hormone replacement therapy. The cerebellar dysfunction has been attributed to metabolic and physiological effects of the endocrine disorder. In a few patients, however, ataxia has persisted despite thyroid replacement therapy. Other mechanisms may be involved in ataxia associated with thyroid disorders. OBJECTIVE: To document progressive non-familial adult onset cerebellar degeneration (PNACD) occurring in six patients with raised antithyroid antibodies (Hashimoto's/autoimmune thyroiditis), and other autoimmune manifestations, in the absence of hypothyroidism; and to document the independence of the cerebellar disorder from the endocrine dysfunction. methods: A case study of six patients with PNACD reviewing the clinical course and relation to endocrine and autoimmune status. RESULTS: All six patients were euthyroid when they developed their symptoms; had raised antithyroid antibodies consistent with Hashimoto's autoimmune thyroiditis; and had strong personal or family histories of organ specific autoimmune diatheses. brain MRI disclosed atrophy of the cerebellar vermis in four patients and olivopontocerebellar atrophy in two. Other possible causes of cerebellar degeneration were excluded. De novo treatment (two patients) or continued treatment (three patients) with L-thyroxine did not modify the progression of the ataxia. CONCLUSIONS: Cerebellar degeneration in these patients with raised antithyroid antibodies may be immune mediated. The presence of antithyroid antibodies may signal or cause the autoimmune process producing cerebellar degeneration. "Hashimoto's associated ataxia" seems to represent a recognisable and not uncommon condition; a trial of immunomodulating therapy should be considered in these patients.- - - - - - - - - - ranking = 1.1725946856947keywords = cerebellar degeneration, degeneration (Clic here for more details about this article) |
8/78. An autopsy case of ornithine transcarbamylase deficiency.We present an autopsy case of ornithine transcarbamylase (OTC) deficiency with grumose degeneration in the dentate nucleus of the cerebellum. The patient had intractable neonatal convulsions and hyperammonemia from the 3rd day after birth. diagnosis of OTC deficiency was made based on null activity of the enzyme and four-base deletions in exon 9 of the OTC gene. death was due to sepsis as well as disseminated intravascular coagulation at 1 year and 2 months of age. Neuropathology showed multiple cystic changes and ulegyria in the bilateral frontal and parietal lobes. Multiple cysts were associated with the region, which was infiltrated with macrophages surrounded by astroglia showing palisading pattern. Ferrugination was marked in the thalamus and severe neuronal loss with astrogliotic change in the CA1-2 area of the hippocampus. Grumose degeneration was noted in the dentate nucleus of the cerebellum. This is the first report of grumose degeneration in OTC deficiency.- - - - - - - - - - ranking = 0.018809660157693keywords = degeneration (Clic here for more details about this article) |
9/78. Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content.Spinocerebellar ataxia type 7 (SCA7) is a hereditary progressive cerebellar ataxia with retinal degeneration associated with an abnormally expanded polyglutamine stretch. Neuronal intranuclear inclusions (NIIs), as in other polyglutamine diseases, are pathological hallmarks of these disorders. NIIs in polyglutamine diseases contain not only the protein with the expanded polyglutamine stretch but also other types of proteins. Several chaperone proteins related to the ubiquitin proteasome pathway, transcription factors and nuclear matrix proteins have been detected in NIIs. The composition of NIIs might reflect the process of NII formation and part of the pathogenesis of these diseases. To investigate how these proteins relate to the pathogenesis of SCA7, we performed immunohistochemical analyses of the composition of NIIs in two cases of SCA7. We demonstrated that there are two types of NIIs in SCA7 that differ in size and immunoreactivity to promyelocytic leukaemia protein (PML), one of the essential components of nuclear bodies (NBs; also called PML oncogenic domains). Small and large NIIs contained ataxin-7, human DnaJ homologue 2 (HDJ-2) and proteasome subunit 19S. In contrast, PML was found only in small NIIs. creb-binding protein (CBP), another component of NBs, was distributed like PML in NIIs. Our results suggest that NIIs are formed by the accumulation of ataxin-7 in NBs, which become enlarged as they recruit related proteins.- - - - - - - - - - ranking = 0.0062698867192311keywords = degeneration (Clic here for more details about this article) |
10/78. Pure cerebello-olivary degeneration of Marie, Foix, and Alajouanine presenting with progressive cerebellar ataxia, cognitive decline, and chorea.Parenchymatous cerebellar cortical atrophy (CCA) usually presents with a "pure" cerebellar ataxia. We describe a patient with a sporadic, late-onset progressive cerebellar ataxia plus cognitive decline and chorea who had CCA at post mortem. We discuss this unique case in the current context of classification of idiopathic cerebellar ataxia.- - - - - - - - - - ranking = 0.025079546876924keywords = degeneration (Clic here for more details about this article) |
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