11/24. 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 = 1keywords = olivopontocerebellar atrophy, olivopontocerebellar (Clic here for more details about this article) |
12/24. blepharospasm associated with olivopontocerebellar atrophy.We report two cases of cranial dystonia (blepharospasm) associated with olivopontocerebellar atrophy (OPCA). The pathophysiology of blepharospasm appears to involve an increased excitability of the interneurons of the blink and corneal reflexes. It is hypothesized that blepharospasm associated with OPCA might be due to rostral brainstem lesions disrupting central dopaminergic and cholinergic pathways, resulting in disinhibition of brainstem reflexes or denervation supersensitivity of the facial nuclear complex.- - - - - - - - - - ranking = 5keywords = olivopontocerebellar atrophy, olivopontocerebellar (Clic here for more details about this article) |
13/24. X-linked olivopontocerebellar atrophy.We present a kindred with a relatively pure cerebellar degeneration that demonstrates X-linked recessive inheritance. The unique clinical picture of affected patients in our kindred is characterized by an infantile onset of ataxia; very slow rate of progression; normal strength, reflexes, and sensation; and cerebellar degeneration with involvement of the olive and pons demonstrated by neuroimaging techniques. The distinction between this and other reported olivopontocerebellar degenerations is made on the basis of the clinical features and mode of inheritance. It is not clear if the distinct clinical pattern in this kindred represents variable expression of a previously reported condition, allelic variance of previously reported kindreds, or a separate clinical entity. Molecular analysis, currently underway, may help settle the issue.- - - - - - - - - - ranking = 4.245062639233keywords = olivopontocerebellar atrophy, olivopontocerebellar (Clic here for more details about this article) |
14/24. Familial olivopontocerebellar atrophy with neonatal onset: a recessively inherited syndrome with systemic and biochemical abnormalities.Clinical and pathological findings are reported in two siblings who presented in the neonatal period with failure to thrive, hypotonia, pericardial effusions, limitation of joint movement, retinal dystrophy and loss of visual function. Additional features were biochemical evidence of purine overproduction and liver dysfunction. Post mortem, the neuropathological findings in both children were typical of olivopontocerebellar atrophy. It is suggested that the cases represent a recessively inherited inborn error of metabolism.- - - - - - - - - - ranking = 5keywords = olivopontocerebellar atrophy, olivopontocerebellar (Clic here for more details about this article) |
15/24. Olivopontocerebellar atrophy with retinal degeneration. A clinical and ocular histopathologic study.The ocular histopathologic and electron microscopic findings were determined in eyes obtained at autopsy from twins with dominant olivopontocerebellar atrophy (OPCA) and retinal degeneration (OPCA type III). On light microscopy, a retinal degeneration that involved primarily the photoreceptor layer was present and appeared to start in the macular area and spread to involve the peripheral fundus. The retinal pigment epithelium was variably hypopigmented and hyperpigmented. On electron microscopy, osmiophilic, multimembranous, and complex lipofuscin inclusions were present in conjunctival cells, keratocytes, lens epithelium, iris and ciliary body fibrocytes, occasional outer retinal cells, and retinal pigment epithelial cells. The twins' father and an older sister were also affected and had classic neurologic and ophthalmologic abnormalities. The similarities were noted between the clinical and ultrastructural findings between OPCA type III and the neuronal ceroid lipofuscinoses.- - - - - - - - - - ranking = 1keywords = olivopontocerebellar atrophy, olivopontocerebellar (Clic here for more details about this article) |
16/24. sleep apnea in olivopontocerebellar degeneration: treatment with trazodone.A 37-year-old man with a 19-year history of progressive autosomal-dominant olivopontocerebellar degeneration developed excessive daytime sleepiness and paroxysmal episodes that clinically resembled an ictal or postictal state. polysomnography showed sleep apnea. Long-term therapy with trazodone resulted in resolution of the paroxysmal episodes, disappearance of daytime sleepiness, and gradual improvement of sleep architecture over several months.- - - - - - - - - - ranking = 1.2253131961652keywords = olivopontocerebellar (Clic here for more details about this article) |
17/24. multiple system atrophy with retinal degeneration in a young child.A 4-year-old girl with multiple system degeneration and retinal degeneration was presented. There was onset of an ataxic gait at two years and rapid progression of retinal degeneration, myoclonus and cranial nerve palsy. Neuropathological examination revealed severe degeneration of the cerebellar cortex and the pathways of auditory and deep sensation, as well as degeneration of the cerebellar efferent fibers, the striatonigral system, the cerebellar afferent fiber system and lower motor neurons. Cases of young children with spinocerebellar degeneration have been reported in several families of olivopontocerebellar atrophy (OPCA), but degenerative changes in our case were more widespread than those in OPCA cases. The multiple system lesions in the central nervous system and retina of this child are different from those of any other previously reported cases.- - - - - - - - - - ranking = 1keywords = olivopontocerebellar atrophy, olivopontocerebellar (Clic here for more details about this article) |
18/24. Skeletal myoclonus in olivopontocerebellar atrophy: treatment with trihexyphenidyl.We studied two patients with nonfamilial olivopontocerebellar atrophy with skeletal myoclonus. Palatal or skeletal myoclonus is probably not a coincidental finding but another manifestation of the underlying disease. In both cases, the myoclonus was suppressed by administration of trihexyphenidyl, indicating a cholinergic disorder.- - - - - - - - - - ranking = 5keywords = olivopontocerebellar atrophy, olivopontocerebellar (Clic here for more details about this article) |
19/24. adult-onset spinocerebellar syndrome with idiopathic vitamin e deficiency.A 62-year-old man and his maternal uncle had a selective vitamin e deficiency without generalized fat malabsorption. A progressive neurological disorder comprising ataxia, areflexia, and loss of proprioception developed in their sixth and seventh decades. The vitamin e deficiency is thought to be due to abnormally accelerated utilization, excretion, or degradation of the vitamin. This adult-onset spinocerebellar syndrome is due to vitamin e deficiency not caused by malabsorption.- - - - - - - - - - ranking = 7.5770048627269E-7keywords = idiopathic (Clic here for more details about this article) |
20/24. levodopa dose-related fluctuations in presumed olivopontocerebellar atrophy.The parkinsonism that occurs in some patients with olivopontocerebellar atrophy (OPCA) can cause diagnostic confusion with idiopathic Parkinson's disease (IPD). The response to levodopa is usually a distinguishing feature, the OPCAs either failing to benefit or losing efficacy relatively quickly. A fluctuating response to levodopa in those OPCA patients who do benefit has not been emphasized in the literature previously. Reported here are three patients with presumed OPCA, dominated by parkinsonian features, who eventually developed typical fluctuations with morning akinesia, wearing off, and periodic lack of response related to meals. These fluctuations were a major source of disability and an important reason for diagnostic confusion with IPD. The possible mechanisms of these fluctuations are discussed.- - - - - - - - - - ranking = 5.0000001894251keywords = olivopontocerebellar atrophy, olivopontocerebellar, idiopathic (Clic here for more details about this article) |
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