1/6. Olivopontocerebellar atrophy presenting with stridor.The spectrum of degenerative ataxia includes the symptomatic degenerative ataxias and the primary degenerative ataxias. The later may be sporadic and idiopathic or hereditary, being genetically determined. When an individual ataxic patient presents with an adult-onset degenerative ataxia and has a negative family history, the physician is faced with a diagnosis of pure idiopathic sporadic degenerative ataxia or one of the hereditary ataxias. The clinical spectrum of olivopontocerebellar atrophy (OPCA) usually consists of pancerebellar signs with pyramidal and abnormal eye movements. Although Stridor is more commonly found in multisystem atrophy, it is rarely seen in OPCA. We, here report a case of third decade onset of ataxia presenting with stridor.- - - - - - - - - - ranking = 1keywords = system atrophy (Clic here for more details about this article) |
2/6. Leukocyte glutamate dehydrogenase activity in patients with degenerative neurological disorders.Leukocyte glutamate dehydrogenase (GDH) activity was measured in 39 normal subjects, 32 neurological controls, 66 patients with progressive ataxic disorders, 32 with multiple system atrophy, 40 with Parkinson's disease, eight with Steele-Richardson-Olszewski syndrome, eight with juvenile Parkinsonism and four with the dystonia-Parkinsonism syndrome. GDH activity was reproducible to within 10% in leukocyte pellets stored at -70 degrees C for up to 9 months, and did not vary with sex or age in control subjects. There was marked variation in the relative proportions of heat stable and heat labile forms of GDH between control subjects and on repeated assay in the same subject. Total leukocyte GDH activity was similar in normal subjects and neurological controls. Mean total GDH activity was reduced in all patient groups by between 15 to 29% compared with controls. Fourteen patients had total GDH activity below 50% of the control mean, but low values were not specific for any one disease (five had ataxic disorders, four Parkinson's disease, three multiple system atrophy, one juvenile Parkinsonism, and one dystonia-Parkinsonism). The heat labile fraction of GDH represented about 20% of total activity in control subjects, and 27% in the patients with reduced total GDH activity. Thus low GDH activity was not disease-specific in this study, and the heat-labile GDH fraction was not selectively affected. "Reduced" leucocyte GDH activity in some patients may represent no more than the lower end of a normal distribution.- - - - - - - - - - ranking = 13.318870157169keywords = multiple system, multiple system atrophy, system atrophy (Clic here for more details about this article) |
3/6. Neurophysiological and neuropathological studies in two children with unusual form of multiple system degeneration: evidence for cerebellar and brainstem involvement.Comparative neurophysiological and neuropathological studies were performed in two children who were found as a very rare multiple system degeneration (MSD) in brainstem and cerebellum. One young child suffered from both multiple system and retinal degeneration and another child had widespread multiple system degeneration associated with lipoprotein disorder and liver cirrhosis. The results of the neurophysiological studies indicated dysfunction of the brainstem and the peripheral nerves and were well correlated with the clinical course. CT studies showed progressive cerebellar atrophy. Since serial neurophysiological and CT studies were compatible with the neuropathological findings, the combination of these examinations seems to be quite valuable for understanding the pathogenesis and monitoring the progression of MSD in childhood.- - - - - - - - - - ranking = 20.723479203025keywords = multiple system (Clic here for more details about this article) |
4/6. 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 = 9.9209940580072keywords = multiple system, system atrophy (Clic here for more details about this article) |
5/6. glutamate dehydrogenase deficiency in machado-joseph disease.We studied the activity of glutamate dehydrogenase (GDH) in leukocytes from 23 patients with dominantly inherited ataxia. All the patients were assessed with a rating scale for ataxias and met the clinical criteria for the diagnosis of machado-joseph disease. The mean age of onset of symptoms was 37.8, SD 13.4 years and the duration of the disease was 7.4, SD 4.9. Leukocyte GDH activity was significantly decreased (p < 0.001) when compared to 20 normal controls. These data extend previous reports indicating that a GDH deficiency is present in peripheral tissues from some patients with spinocerebellar degenerations. Furthermore, this study suggests that a genetic deficiency of GDH may underlie some forms of dominant ataxias; this deficiency may be marked in patients with machado-joseph disease and is not specific for any type of multiple system atrophy.- - - - - - - - - - ranking = 6.6594350785845keywords = multiple system, multiple system atrophy, system atrophy (Clic here for more details about this article) |
6/6. Spinocerebellar ataxia type 1 with multiple system degeneration and glial cytoplasmic inclusions.Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited progressive neurological disorder characterized by neuronal degeneration and reactive gliosis in the cerebellum, brainstem, spinocerebellar tracts, and dorsal columns. multiple system atrophy is a sporadic progressive neurological disorder with degeneration and gliosis in the basal ganglia, cerebellum, brainstem, and spinal autonomic nuclei, and with argyrophilic glial cytoplasmic inclusions. We describe 4 members of a family with the SCA1 mutation and a dominantly inherited progressive ataxia in which autopsy examination of 1 member showed neuropathological changes typical of multiple system atrophy, including glial cytoplasmic inclusions. In this patient, magnetic resonance imaging revealed marked brainstem and cerebellar volume loss and mild supratentorial generalized volume loss. Positron emission tomography with [18F]fluorodeoxyglucose revealed widespread hypometabolism in a pattern found in sporadic multiple system atrophy and not in dominantly inherited olivopontocerebellar atrophy. Positron emission tomography with [11C]flumazenil revealed normal benzodiazepine receptor distribution volumes, similar to those seen in sporadic multiple system atrophy. Two other family members still living had similar changes in the imaging studies. The findings in this family suggest that the SCA1 gene mutation can result in a disorder similar to multiple system atrophy, both clinically and neuropathologically.- - - - - - - - - - ranking = 39.479728430352keywords = multiple system, multiple system atrophy, system atrophy (Clic here for more details about this article) |