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

Jejunal mucosa from 7 patients with amyotrophic lateral sclerosis (A.L.S.), 20 newly reported patients with multiple sclerosis (M.S.), and 35 control patients without either disease was studied by immunofluorescence. An immune reaction was present in all A.L.S. specimens and consisted of altered ratios of immunoglobulin-labelled cells in the lamina propria, complement-labelled cells in the same location, and, in some, immunoglobulin and complement deposits in the epithelial basement membrane. Poliovirus antigen was detected in 4 cases, and in 1 of the these cases measles antigen was also present. A fifth specimen showed large amounts of herpesvirus antigen. In 2 cases studied at necropsy, both viral infection and immunological change was confined to the proximal jejunum. Measles antigen was identified in every case of M.S., and in biopsy specimens from 16 of the 20 M.S. patients immunological reactions similar to those seen in A.L.S. were present. With 2 exceptions, the controls did not show these changes in the jejunal mucosa. The exceptions were a patient with Friedreich's ataxia, who had an increase of IgG-labelled cells and some complement-bearing cells in the lamina propria, and a patient diagnosed as having non-tropical sprue, in whom large quantities of herpes antigen were seen.
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PMID:Jejunal immunopathology in amyotrophic lateral sclerosis and multiple sclerosis. Identification of viral antigens by immunofluorescence. 6 22

The value of evoked potentials in studying conduction in the somatosensory pathway was assessed in patients with various neurological disorders. In patients with multiple sclerosis (MS) abnormalities of the cervical response (N14) were found particularly in longstanding cases but also in the early stages of the disease, even in patients without sensory symptoms or signs, and were reversible in some patients. The cortical response was also abnormal in some cases but the two were not always affected together. In Friedreich's ataxia both the cervical and cortical responses were usually abnormal. Subclinical abnormalities of the cervical responses were found in some patients with hereditary spastic paraparesis or mixed forms of spinocerebellar ataxia. The cervical responses were also abnormal in patients with peripheral neuropathy and cervical radiculopathy, and in some patients with brain-stem or thalamic lesions. Cervical and cortical responses were normal in the lateral medullary syndrome, whereas the cortical response was markedly abnormal in patients with high brain-stem or cerebral hemisphere vascular lesions. Cortical and subcortical responses were abnormal in some patients with stereotactic thalamic lesions. Enhanced cortical responses were found in patients with lesions at different levels in the CNS. The most marked enhancement was observed in patients with familial myoclonic epilepsy. Lesser degrees were found in some patients with MS, progressive supranuclear palsy, thalamic lesions, brain-stem encephalitis and syringomyelia. Enhanced responses were usually found in patients with minimal or no clinical sensory involvement. It is postulated that this type of abnormality results from an interference to the inhibitory mechanisms which normally operate at various levels in the somatosensory pathway. It is concluded that evoked potential studies are a valuable adjunct to the clinical evaluation of sensation, and that they may provide useful information on the pathophysiology of conduction in the somatosensory pathway.
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PMID:The contribution of evoked potentials in the functional assessment of the somatosensory pathway. 22 50

Cranial CT in 39 patients (23 belonged to 8 families) with four different groups of hereditary ataxia (HA) showed mainly three combinations of atrophic findings: (1) cerebellar ataxia (CA, n = 17) had marked atrophy of the cerebellum and/or the brain stem combined with moderate cerebral atrophy; (2) an intermediate group consisting of hereditary spastic paraplegia (HSP, n = 10) and Friedreich's ataxia (FA, n = 7), both with moderate infra- and supratentorial atrophy; (3) atrophy was hardly demonstrated in the group of Charcot-Marie-Tooth disease (CMT, n = 5). HA cases with atrophy could be distinguished from multiple sclerosis (MS) by CT.
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PMID:Computed tomography in hereditary ataxias. 74 5

We searched for evidence of infection by the human T-cell lymphoma/leukemia virus type I (HTLV-I) in patients with multiple sclerosis (40 cases); brainstem encephalitis (1 case); Friedreich's ataxia (1 case); spastic paraparesis of unknown etiology (1 case). All patients were from the region of Abruzzo, Italy. Sera were all negative for anti-HTLV-I reactivity by the Western blotting (WB) analysis. DNAs from peripheral blood mononuclear cells were amplified using the polymerase chain reaction (PCR) technique with primers specific for the HTLV-I gag, pol, and env proviral regions. HTLV-I sequences were amplified only in the patient with spastic paraparesis of unknown etiology. In this case, HTLV-I infection might have been related to blood transfusions received 2 years prior to the onset of the neurologic symptoms. Members of the patient's family were negative for HTLV-I by PCR and WB. These data indicate that HTLV-I associated myelopathy is present also in Italy, but fail to substantiate an association of HTLV-I with multiple sclerosis.
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PMID:Amplifications of multiple regions of the HTLV-I genome from DNA of an Italian spastic paraparesis patient but not from DNA of multiple sclerosis patients. 186 36

To investigate subclinical sensory impairment in spinocerebellar degenerations, median nerve somatosensory evoked potentials (SEPs) were examined in 16 patients with chronic cerebellar ataxia who were originally diagnosed by clinical neurologists as having olivopontocerebellar atrophy (OPCA). Two types of abnormal SEP patterns were found in six patients. Two patients had the SEP pattern of peripheral neuropathy, which was also detected by peripheral sensory nerve conduction studies. Four patients had abnormal SEPs seen in patients with the lesions in the central nervous system (dorsal column, medial lemniscus). Magnetic resonance imaging (MRI) showed multiple sclerosis (MS). It is possible that clinically diagnosed OPCA sometimes includes a similar form of Friedreich's ataxia with subclinical sensory fiber neuropathy detected by SEPs and peripheral sensory conduction studies. In cases of lesions in the central nervous system demonstrated by both SEPs and MRI, there must be a follow-up in order to make a final diagnosis. In those cases, an alternative diagnosis of MS must be considered when the temporal profile of symptoms and signs characteristic of MS is observed.
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PMID:Two types of abnormal somatosensory evoked potentials in chronic cerebellar ataxias. 200 66

We describe 2 clinicopathological cases of non-hereditary multiple telangiectasias of the nervous system. In the first case, the general course of the disease was characterized by spells over a period of 7 years and the major lesions successively involved cranial nerves, spinal cord and brain. Neuropathological examination showed both ischemic and hemorrhagic changes. Systematized degenerative changes were found and were similar to those observed in spinocerebellar heredodegenerations (Friedreich's ataxia). In the second case, the 3 years of evolution were characterized by spells of the encephalitic type only. A review of the literature indicates the rarity of this kind of disease, the usual localization of capillary malformations and the clinical polymorphism (epilepsy, strokes, multifocal syndromes masquerading as multiple sclerosis). The pathogenesis of pathological changes is discussed.
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PMID:Non-hereditary multiple telangiectasias of the central nervous system. Report of two clinicopathological cases. 344 Aug 71

Visual evoked potentials (VEPs) were delayed in 11 out of 18 patients with Friedreich's ataxia, in 1 out of 8 patients with Strumpell's hereditary spastic ataxia, in 2 out of 5 cases with cerebellar atrophy and in 42 out of 50 patients with multiple sclerosis (MS). Responses were normal in 5 cases with Pierre Marie's disease. Amplitude and temporal dispersion were statistically analyzed in the above-mentioned groups of patients with respect to controls. An abnormal temporal dispersion, also considered as interpeak N1P2, was frequently found in MS but only occasionally in spinocerebellar ataxias. Amplitude was statistically reduced in Friedreich's ataxia group, where an inverse relationship between latency and amplitude was found. No relation was found between VEP delay and duration of the disease, in any group considered.
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PMID:Comparative study of visual evoked potentials in spinocerebellar ataxias and multiple sclerosis. 399 30

We previously found that some patients with multiple sclerosis are selectively 'deaf' to changes in the pitch of a tone, even when audiometric sensitivity to pure tones is unimpaired. This subtle form of deafness is not experienced by patients with noise-induced hearing loss of exclusively peripheral origin. It was suggested that this auditory defect may be one possible cause for difficulties in discriminating speech, on the grounds that frequency changes in the speech waveform are known to be important for intelligibility. This implication is not self-evident; our earlier studies tested hearing with a single pure tone that was either frequency-modulated or amplitude-modulated, while even a simple approximation to speech sounds involves not one, but three narrow bands of noise (formants) whose frequencies and intensities change from instant to instant. The present study has investigated the ability of subjects to discriminate between speech-like sounds. These consisted of three formant frequencies generated by computer. The only difference between the sounds was that the lowest-frequency formant rose or fell in pitch by different amounts. In order to ensure that subjects used frequency (pitch) cues rather than any associated loudness cues were mixed different loudness shifts with the frequency shifts. Nineteen control subjects, 25 patients with multiple sclerosis (MS) and 4 patients with Friedreich's ataxia (FA) were tested. Nine of the patients with MS and all 4 patients with FA gave results that fell outside the range of the control subjects. A possible pathophysiological basis for this observation is the finding that some neurons in the auditory pathway of animals respond preferentially to changes in tone frequency: homologues of these neurons might be functionally impaired in some patients with MS and FA.
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PMID:Degraded discrimination between speech-like sounds by patients with multiple sclerosis and Friedreich's ataxia. 650 11

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

Visual evoked potentials to pattern-reversal stimulation have been recorded in 45 patients with Friedreich's ataxia. In six patients, no response could be obtained because of optic atrophy; altogether, pathological results were found in 25 patients (55%). Normal latencies were recorded in 20 patients (45%). No statistically significant connection could be drawn between the result of the VEP testing and visual acuity, age, or onset and duration of sickness, but there was a strikingly familiar accumulation of results. There is a good conformity between our results and the incidence of optic atrophy in later stages of the disease as shown by pathological-anatomical and epidemiological studies. We have demonstrated that optic nerve lesions in Friedreich's ataxia are not as rare as is frequently assumed and that the VEP is a valuable tool for detecting them. On the other hand, unfortunately, the VEP is of no help in the differential diagnosis of Friedreich's ataxia versus multiple sclerosis.
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PMID:Visually evoked potentials in Friedreich's ataxia. 705 33


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