Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A few human diseases may be viewed from a phylogenetic perspective. Some metabolic or degenerative diseases selectively affect recently evolved or exclusively mammalian structures of the brain and spare the older structures. Examples include Krabbe's leukodystrophy, olivopontocerebellar atrophy, Friedreich's ataxia, Pick's disease, and Leber's optic atrophy. Some pathologic conditions in man are similar to normal anatomy in other species, although the mechanisms may differ. Congenital muscle fiber-type disproportion in rodents, Dandy-Walker cyst in birds, and agenesis of the corpus callosum in marsupials are representative of this category. Loss of basal dendritic spines from pyramidal cells in Pick's disease is reminiscent of certain large neurons normally found in the cortex of reptiles. Changes in metabolism in the evolution of mammals in general and of man in particular may explain some aspects of 'phylogenetic diseases'. Some potential examples are the shift from predominantly phospholipids to galactolipids in myelin composition as mammals evolved, and the greater toxicity of cyanide and other poisons of oxidative metabolism in mammals than in other vertebrates because of less reliance on anaerobic metabolism as an alternative energy source.
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PMID:Hypothesis: Phylogenetic diseases of the nervous system. 670 91

Visual (VEP), brainstem auditory (BAEP), and somatosensory (SEP) evoked potential tests were performed in 45 patients representing ten types of inherited disorders in which ataxia was the most prominent symptom. Comparable VEP abnormalities were present among all types of patients. Normal BAEP tests were recorded in most patients except those with olivopontocerebellar atrophy. SEP results were often more severely abnormal in patients with Friedreich's ataxia. The observations emphasize the similarity in expression of different metabolic-degenerative disorders. When these tests are used clinically, certain features of evoked potentials (especially left-right symmetry) are typical of the inherited ataxias as a group. Few distinguishing features differentiate the individual disorders.
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PMID:Evoked potential abnormalities in the various inherited ataxias. 683 Jan 60

Cranial computerized tomography was carried out in 110 patients with cerebellar ataxia [53 with Friedreich's ataxia, 4 with Marie's spastic ataxia, 51 with cerebellar atrophy, and 2 patients with olivopontocerebellar atrophy). In CT scans, cerebellar atrophies are found to be of various localization and partially of characteristic distribution. CT, therefore, greatly helps to distinguish different types of cerebellar and spinocerebellar atrophies and allows the differentiation of cerebellar atrophies of various origins from other diseases, such as multiple sclerosis.
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PMID:Cranial computerized tomography in spinocerebellar atrophies. 695 61

Leucocyte Glutamate Dehydrogenase (GDH) activity was measured in 44 patients with various forms of ataxia and 44 age and sex-matched normal controls. The only significant change found was a moderate decrease in activity in Friedreich's ataxia and a few patients with OPCA. This decreased activity is not primary to the disease but probably reflects a regulatory defect affecting mitochondrial membranes in these patients.
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PMID:Leucocyte glutamate dehydrogenase in various hereditary ataxias. 721 57

Nerve conduction studies have been performed in 19 subject with hereditary spinocerebellar degenerations other than Friedreich ataxia. Clinically, they may be classified as olivopontocerebellar atrophy or cerebello-olivary degeneration. In 9 patients, sensory conduction was abnormal, and in the whole group there was a significant impairment of sensory conduction and mild slowing of motor conduction in the lateral popliteal nerve. Sural nerve biopsies were performed on 5 patients. In 3 cases there was a mild to moderate reduction of myelinated fibers of all diameters; unmyelinated fibers were normal. In 1 patient from a kindred with a spinocerebellar degeneration in which the inheritance was autosomal dominant, neuropathological findings at autopsy confirmed the clinical diagnosis of the Menzel type of olivopontocerebellar atrophy; there was a degeneration of dorsal root ganglion and anterior horn cells as well as of myelinated fibers of all diameters in the sural nerve.
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PMID:Peripheral neuropathy in spinocerebellar degenerations. 723 46

Levels of corticotropin-releasing hormone (CRH) in cerebrospinal fluid (CSF) were examined in patients with spinocerebellar degeneration (SCD) including olivopontocerebellar atrophy (OPCA), dentatorubropallidoluysian atrophy (DRPLA) and Friedreich's ataxia, Parkinson's disease (PD) and senile dementia of the Alzheimer type (SDAT), and normal aged subjects. CRH concentrations in CSF were significantly reduced in SCD compared to SDAT, PD and CSF and normal aged subjects. It is likely that degeneration not only of the cerebral cortex and the limbic system but also of the subcortical structures such as the brainstem and the cerebellum alters levels of CRH in CSF. Together with the recent anatomical and physiological evidence, the results suggest pathophysiological relevance of CRH for the cerebellar symptoms in SCD.
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PMID:Cerebrospinal fluid corticotropin-releasing hormone in neurodegenerative diseases: reduction in spinocerebellar degeneration. 747 76

The many conventional classifications of cerebellar degeneration are usually based on information obtained in post-mortem examinations. On the other hand, neuroimagings, particularly with follow-up imaging studies, can demonstrate morphologic changes at various stages of disease evolution in living patients, thus providing a better understanding and evaluation of the disease processes, leading towards an earlier and more accurate diagnosis. Obviously, some patients require determination of a biochemical marker or markers in the final diagnosis. In Friedreich's ataxia, major changes are severe atrophy of the spinal cord with flattening of its posterior aspect. The medulla oblongata becomes smaller and the vermian and paravermian structures adjacent to the primary fissures become mildly atrophic. In hexosaminidase deficiency, there is pancerebellar atrophy with marked dilatation of the fourth ventricle. Cerebellar atrophy is more marked in the hemispheres than in the vermis, while the brain stem shows little change. The frontal and parietal sulci are usually slightly prominent. In cerebello-olivary atrophy (also called cortical cerebellar degeneration), there is atrophy of the superior vermis, especially the declive, folium and tuber. There is also atrophy of the lateral part of the cerebellar hemispheres, giving an appearance of the "fish-mouth deformity" on parasagittal sections. The fourth ventricle may be greatly enlarged. In dominant olivopontocerebellar atrophy (OPCA), the Menzel type is characterized by cerebellar atrophy of the "fine comb" type with the greatest involvement in the anterior lobe and in the upper part of the middle lobe. The hemispheres are more involved than the vermis. The brainstem, especially the pons, and the brachia pontis are also atrophic. In severe cases, the changes are very marked. Although the fourth ventricle is large, it lacks the ballooning characteristic of OPCA with slow saccades. In OPCA with slow saccades with or without retinal degeneration, the most pathognomonic features are "ballooning of the fourth ventricle" due to excavation of its floor and the "molar tooth deformity" secondary to severe atrophy of the pons, brachia pontis and conjunctiva. The cerebellum usually shows pancerebellar atrophy of the "fine comb" type. In recessive OPCA, cerebellar atrophy is most marked in the lateral part of the cerebellar hemispheres with "fish mouth deformity" secondary to drop-out of the tertiary and secondary folia from the primary folia. This feature is less marked in cases of atypical cerebello-olivary atrophy. In late-onset sporadic OPCA with autonomic failure, the cerebellum, especially its lateral portions and the brainstem, are variably involved in the atrophic processes, ranging from very mild to severe involvement.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:MRI and CT features of cerebellar degeneration. 810 35

In this study we compare the results of quantitative oculomotor function testing in patients with Friedreich's ataxia (FA), olivopontocerebellar atrophy (OPCA) and cerebello-olivary atrophy (CA). Common features in all three syndromes included gaze-evoked nystagmus, saccade dysmetria and prolonged saccade reaction times. Patients with FA showed a characteristic combination of frequent saccadic intrusions, especially ocular flutter, relatively preserved optokinetic nystagmus (OKN) and smooth pursuit, and impaired vestibulo-ocular reflex (VOR) responses. In patients with CA saccadic intrusions were infrequent, OKN and smooth pursuit were severely impaired and VOR gain was normal or increased. Results in OPCA were more variable. When present, slowing of saccades or the combined loss of pursuit and vestibular function were characteristic for OPCA. The ability to suppress the VOR with a head fixed target was relatively preserved in FA, normal to moderately impaired in OPCA and always severely impaired in CA. We conclude that oculomotor testing is useful in the differential diagnosis of the progressive ataxia syndromes.
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PMID:Comparison of oculomotor findings in the progressive ataxia syndromes. 814 9

A nationwide epidemiological study on spinocerebellar degeneration (SCD) including multiple system atrophy was performed in Japan from 1988 to 1989. The national prevalence rate of SCD was estimated to be 4.53/100,000 in 1987. The percentage of patients with each subtype of SCD was; olivopontocerebellar atrophy (OPCA) 34.4%, Menzel type of hereditary cerebellar ataxia (MHCA) 12.6%, Holmes type of hereditary cerebellar ataxia (HHCA) 7.5%, Shy-Drager syndrome (SDS) 7.0%, hereditary spastic paraplegia (HSP) 3.9%, dentatorubro-pallidoluysian atrophy (DRPLA) 2.5%, Friedreich ataxia (FA) 2.4%, Joseph disease (JD) 2.0%, and striatonigral degeneration (SND) 1.5% in decreasing order. In Japan, compared to European countries, non-hereditary types seemed to be commoner than hereditary types. OPCA was the most common disorder, but FA which is the most common disorder in European countries was found to be rare in Japan. We grouped the SCD on the basis of common pathological lesions, and compared the clinical features in the same group according to the severity stages. Similarity and differences in non-hereditary cerebellar form (LCCA, HHCA), multiple system atrophy (OPCA, SDS, SND), hereditary cerebello-brainstem form (MHCA, JD, DRPLA), and hereditary spinal from (FA, HSP) were elucidated. As to the functional status in SCD, there was a significant association between the severity of illness and the level of independence in each item of ADL, and also between poorer functional prognosis and presence of extrapyramidal and autonomic signs.
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PMID:[Spinocerebellar degeneration in Japan--the feature from an epidemiological study]. 817 25

Fifteen patients with Friedreich's ataxia (FA) and 15 others with olivopontocerebellar atrophy (OPCA) were evaluated with a comprehensive neuropsychological battery of tests. They were pair-matched with normal controls for age, sex and education. Depressed patients were excluded from the study as were those with extrapyramidal signs. The following results were obtained: (1) the Raven test, untimed block design performance in OPCA and quantitative analysis of Rey figure drawing revealed a visuospatial deficit suggestive of a mild parietal-like syndrome; signs of mild frontal-like syndrome were also found; (2) cognition was slowed in the FA group; (3) simple visual and auditory reaction times were increased in both patient groups. It appears that the cerebellum may interfere indirectly with cognition through various physiological and neurochemical 2-way cerebellocortical loops. Finally, the cerebellum seems to interfere directly also with basic speed of information processing.
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PMID:Cognitive behavior in heredodegenerative ataxias. 824 9


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