Cases reported "Cerebellar Diseases"

Filter by keywords:



Filtering documents. Please wait...

1/7. Cerebellar hypoplasia in Werdnig-Hoffmann disease.

    The case of an infant with Werding-Hoffmann disease, who died at the age of 4 1/2 days, is reported. At autopsy there was severe cerebellar hypoplasia, associated with degenerative changes in the brain-stem nuclei. This case supports the concept that cerebellar hypoplasia may develop as a manifestation of the neuronal abiotrophy of Werdnig-Hoffmann disease. A similarity has been noted between the cerebellar lesion found in the child reported here and that produced by viral infection in experimental animals.
- - - - - - - - - -
ranking = 1
keywords = animal
(Clic here for more details about this article)

2/7. purkinje cells in degenerative diseases of the cerebellum and its connections: a Golgi study.

    The cellular pathology of purkinje cells in several degenerative diseases of the cerebellum and its connections was studied with the rapid Golgi method. Purkinje cells from a patient with Creutzfeldt-Jakob disease (case 1) showed decreased numbers of spiny branchlets. In a patient with a cystic infarct of the cerebellar white matter and chronic deafferentation of the cerebellar cortex (case 2) there was a striking increase in the density of spines on the primary dendrites. No abnormalities were observed in purkinje cells from two patients with hereditary spinocerebellar degeneration (cases 3 and 4). purkinje cells in two patients with olivopontocerebellar atrophy (OPCA) had severely reduced numbers of dendritic branches. Ballooned proximal axons were found in purkinje cells with severely damaged dendrites (cases 5 and 6). In contrast to experimental olivary degeneration in laboratory animals, purkinje cells from patients with OPCA did not have increased numbers of stubby spines in stout proximal dendrites but few spines with long pedicles were observed in the proximal segment of the primary dendrites and in the cellular body.
- - - - - - - - - -
ranking = 1
keywords = animal
(Clic here for more details about this article)

3/7. Autosomal recessive cerebellar hypoplasia.

    Cerebellar hypoplasia is found in association with a variety of neurologic and systemic disorders. It is the primary finding in the uncommonly reported condition of autosomal recessive cerebellar hypoplasia. We describe two siblings with cerebellar hypoplasia documented in both by magnetic resonance imaging (MRI) and review the clinical features of previously reported cases of autosomal recessive cerebellar hypoplasia. The most common findings in this disorder are nonprogressive ataxia, strabismus, mental retardation, and speech delay with dysarthria. Previously reported cases have been confirmed by autopsy, pneumoencephalography, or computed tomographic (CT) scans. MRI clearly documents diffuse cerebellar hypoplasia and aids in distinguishing autosomal recessive cerebellar hypoplasia from other disorders. The pathophysiology of this disorder is uncertain, however, studies of the weaver mutant mouse (an animal model of autosomal recessive cerebellar hypoplasia) suggest that an abnormality of the Bergmann glia may lead to the observed granule cell layer deficiency in these patients. This diagnosis should be considered for children with nonprogressive ataxia and families should be made aware of the 25% recurrence risk.
- - - - - - - - - -
ranking = 1
keywords = animal
(Clic here for more details about this article)

4/7. Small bowel resection with vitamin e deficiency and progressive spinocerebellar syndrome.

    A 27-year-old woman who had undergone extensive small bowel resection at age 14 months developed kyphoscoliosis, ocular palsies, constricted visual fields, retinitis pigmentosa, progressive ataxia, muscular weakness, nearly absent vibration and impaired position sense, areflexia, extensor plantar responses, and macrocytic anemia. Her condition closely resembled Bassen-Kornzweig disease, but lipoprotein electrophoresis was normal. Mild fat malabsorption, lactic acidosis, and severe deficiency of vitamins A and E and carotene were documented. serum B12 and folic acid levels were normal. During vitamin a and E therapy sufficient to elevate serum levels to the normal range, there was improvement of visual fields and visual acuity in dim light, lactic acidosis, and red cell volume. Progression of symptoms was halted during vitamin replacement therapy, and her gait improved. This syndrome is the human counterpart to vitamin e deficiency in experimental animals.
- - - - - - - - - -
ranking = 1
keywords = animal
(Clic here for more details about this article)

5/7. Spinocerebellar degeneration secondary to chronic intestinal malabsorption: a vitamin e deficiency syndrome.

    Two adults are described who developed a progressive neurological disorder more than 20 years after the onset of chronic fat malabsorption. The clinical features included dysarthria, cerebellar ataxia, and prominent proprioceptive loss with depressed or absent tendon reflexes. serum vitamin E was undetectable in both cases. One patient improved clinically and electrophysiologically after oral therapy with vitamin E. The findings in these patients were similar to those in others recently reported with vitamin e deficiency associated with biliary atresia. Electrophysiological observations suggested that the human deficiency state parallels that found neuropathologically in vitamin E-deficient animals.
- - - - - - - - - -
ranking = 1
keywords = animal
(Clic here for more details about this article)

6/7. Trial to establish an animal model of paraneoplastic cerebellar degeneration with anti-Yo antibody. 2. Passive transfer of murine mononuclear cells activated with recombinant Yo protein to paraneoplastic cerebellar degeneration lymphocytes in severe combined immunodeficiency mice.

    Passive transfer of serum IgG or mononuclear cells from peripheral blood of a patient with paraneoplastic cerebellar degeneration (PCD) to rodents was carried out in order to examine the role of anti-Purkinje cell antibody (anti-Yo antibody) present in serum and cerebrospinal fluid of PCD patients. After a single injection of IgG into mouse brain, it was taken up by purkinje cells and remained there for more than 36 h without Purkinje cell loss. Injection of PCD IgG together with complement or lipopolysaccharide-activated human macrophages or rat mononuclear cells into rat ventricles did not cause Purkinje cell loss. We also studied passive transfer of the PCD patient's lymphocytes to mice with severe combined immunodeficiency (SCID). We constructed a recombinant Yo fusion protein that has the leucine-zipper protein (Yo protein), the common epitope for anti-Yo antibody for immunizing mice, and that resulted in production of significant amounts of anti-Yo antibody. spleen cells from these Yo protein immunized mice were injected intravenously or intracerebrally into naive mice that subsequently showed no neurological symptoms or loss of purkinje cells. We conclude that the anti-Yo antibody, either in combination with or without complement or activated mononuclear cells, cannot be the sole cause of Purkinje cell loss.
- - - - - - - - - -
ranking = 4
keywords = animal
(Clic here for more details about this article)

7/7. Cytotoxic T cells react with recombinant Yo protein from a patient with paraneoplastic cerebellar degeneration and anti-Yo antibody.

    antibodies against autologous tumor cells and neurons are found in the sera or cerebrospinal fluid of patients with paraneoplastic neurological syndromes. Attempts to produce animal models by passive transfer or active immunization, however, have failed, and there is no direct evidence that antibodies cause neuronal damage. Previously, we found that patients with paraneoplastic cerebellar degeneration (PCD) and anti-Yo antibody tested had HLA A24. We now have studied cytotoxic T cell activity in peripheral blood that reacts with recombinant Yo protein when autologous dendritic cells are used as the target. Results suggest that cytotoxic T cells are involved in Purkinje cell loss in PCD.
- - - - - - - - - -
ranking = 1
keywords = animal
(Clic here for more details about this article)


Leave a message about 'Cerebellar Diseases'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.