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)

The authors report a clinical review of 16 childhood cases with early-onset cerebellar ataxia with retained tendon reflexes. The preservation of tendon reflexes distinguishes this disorder from Friedreich's ataxia. The mean age of onset of symptoms was 7.1 years. The main presenting symptom was abnormal gait (100%). Ataxia of gait and limbs and normal or increased tendon reflexes were found in all cases. This disorder is associated with dysarthria, pyramidal signs in the limbs, and in some instances, sensory loss. Other important differences from Friedreich's ataxia are absence of optic atrophy, diabetes mellitus, cardiomyopathy and severe skeletal deformity. Sensory nerve conduction was found to be normal, excluding one case. This finding constitutes another aspect of the syndrome different from Freidreich's ataxia. CT scans were normal in 2 of the 4 cases. The remaining two cases showed cerebellar atrophy. Inheritance is probably autosomal recessive in the majority of cases.
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PMID:Early-onset cerebellar ataxia with retained tendon reflexes. 261 87

The important clinical features of seven patients with an early onset slowly progressive heredofamilial spinocerebellar degenerative disorder of probably autosomal recessive inheritance included limb ataxia, retained and/or exaggerated tendon reflexes (biceps and knee), pyramidal weakness of lower limbs and normal sensory action potentials. This rare disorder is probably distinct from Friedreich's ataxia and carries a better prognosis.
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PMID:Early onset hereditary spinocerebellar ataxia: an autosomal recessive disorder distinct from Friedreich's ataxia. 263 Apr 44

Sixty-eight human fibroblast cell strains were assayed for radioresistant DNA synthesis (RDS), which is defined here as the absence of a steep component of inhibition of DNA synthesis in a dose-response curve when rate of DNA synthesis is plotted against radiation doses from 0 to 20 Gy or more. Twenty-seven strains from patients who were previously diagnosed to have ataxia-telangiectasia (AT) were positive for this feature. Among the cell strains that did not show RDS were two from AT obligate heterozygotes (i.e., the parents of AT patients), two from patients with Alzheimer disease, two from patients with Friedreich ataxia, one from a patient with Bloom syndrome, one from a patient with Down syndrome, and six from patients with various immunodeficiencies. Four strains demonstrated RDS that was less pronounced than in most AT cells: one was from a patient with Nijmegen breakage syndrome, one was from a patient without ataxia but with choreiform movement disorder, telangiectasia, and elevated concentrations of alpha-fetoprotein in the blood, and two were from AT patients. RDS therefore is not a necessary trait of human genetic diseases that involve radiosensitivity or immunodeficiency. Although recent reports suggest that some AT patients do not exhibit RDS, we found RDS in all the AT cells we tested.
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PMID:Radioresistant DNA synthesis and human genetic diseases. 272 85

Spinocerebellar degeneration (SCD) is associated with other various degeneration of the nervous systems such as the optic tract, pyramidal pathway, extrapyramidal system, nuclei of the brain stem and autonomic nervous system as well as changes of heart. The clinical pattern, also have the great variability. We investigated the mode of progression of clinical symptoms and signs in 214 cases of SCD which were examined 2 times at intervals of about 10 years. 79 of 214 cases were reported to be died at the last examination. 135 alive cases included 3 with the Holmes type, 14 with late cortical cerebellar atrophy (LCCA) 10 with Menzel type, 18 with olive-ponto-cerebellar atrophy (OPCA), 33 with spinocerebellar form (SCF), 6 with Friedreich's ataxia, 18 with hereditary spastic paraparesis (HSP) and 33 with the other type. 79 dead cases included 0 with the Holmes type, 6 with LCCA, 5 with Menzel type, 32 with OPCA, 16 with SCF, 1 with Friedreich's ataxia, 4 with HSP and 15 with the other type. The disability of daily living in SCD revealed slower progression in the advanced stage than in the early stage. Every type of SCD had some different progression of disability each other. In the early stage, Friedreich's ataxia showed the highest progression of disability, but in the advanced stage, Holmes type and the OPCA did. Holmes type showed progression of ataxia without any remarkable change of other systems. LCCA showed increase of abnormality in the eye movements, pyramidal tract and autonomic nervous system in addition to the cerebellar system. OPCA involved multiple systems as ataxia worsening, but Menzel type had no remarkable changes of incidence in eye movement disorder.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Analysis of follow-up survey in spinocerebellar degeneration]. 275 38

In the clinical literature, the majority of patients with Friedreich's ataxia are described as having signs of intellectual decline and serious psychiatric symptomatology. Recent studies contradict this clinical picture, but indicate some discrete mental status changes, such as slowing of information processing speed not related to motor abnormality, in a more strictly defined Friedreich's population. This study describes the mental status changes in a sample of 38 patients seen at the University of California at Los Angeles Neuropsychiatric Hospital, Ataxia Clinic. The sample was defined using strict clinical and biochemical criteria. Only one of the 38 patients showed evidence of intellectual deterioration. Ninety-two percent of the patients experienced some affective difficulty, however, ranging from major depression to normal grief. Three patients have reached their mid-forties (one is 64 years of age) without any serious mental status changes. These findings point out the importance of nurses' expecting these patients to function normally in the cognitive domain. Implications related to specific nursing interventions are discussed.
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PMID:The mental status of patients with Friedreich's ataxia. 296 Jul 57

Thirty-five CT scans were studied from patients with several forms of spinocerebellar degeneration. Atrophy was determined by objective measurements of the number and width of cerebellar sulci, transverse diameter and surface area of the fourth ventricle, brainstem ratio, cerebellopontine angle cistern, and Evans' index. Two-thirds of the patients with Friedreich's ataxia showed moderate cerebellar atrophy and an increase in the surface area of the fourth ventricle. Severe cerebellar atrophy and enlargement of the cerebellopontine angle cistern was seen in patients with olivopontocerebellar (OPC) atrophy and idiopathic cortical cerebellar atrophy. In the OPC atrophy group there was also prominent atrophy of the brainstem and an increase in the fourth ventricle parameters. Alcoholic cerebellar degeneration showed a specific pattern of cerebellar atrophy most prominent in the superior vermis, together with a slight increase in the fourth ventricle surface, a reduction in the size of the brainstem, and an enlargement of the cerebellopontine angle cistern. Supratentorial atrophy was present only in the OPC and alcoholic atrophy groups. In one patient with spastic ataxia, CT was normal but MR imaging revealed prominent atrophy of the spinal cord. These CT patterns appear to be distinctive enough to permit the diagnosis and classification of the various forms of spinocerebellar degeneration.
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PMID:CT findings in spinocerebellar degeneration. 311

This paper examines the topography of neuronal degeneration in the central nervous system of the dystonia musculorum (dt) mutant mouse, revealed by selective silver impregnation, specific histochemical staining and electron microscopy. Neuronal lesions have been observed exclusively in the spinal cord, the medulla and the anterior lobe of the vermis. In the spinal cord, axonal degeneration was maximal among large and medium-sized primary sensory fibers, whereas thin caliber primary afferents were unaffected, with the exception of those containing acid phosphatase activity. In regions of laminae VI to VIII that receive numerous degenerative primary afferents, neurons undergoing different phases of degeneration (chromatolysis, lipid accumulation, dark shrunken necrosis) were constantly found. Most of the latter belonged to spinocerebellar neurons, owing to the presence of fiber degeneration in both spinocerebellar tracts and mossy fiber degeneration in the anterior vermal lobe. In the medulla only axonal degeneration was observed and was confined to three fiber systems: the dorsal column pathway, the sensory trigeminal fibers (both from the trigeminal ganglion and from the mesencephalic trigeminal nucleus), and the spinocerebellar fibers entering the cerebellum through the inferior and superior cerebellar peduncles. This study also suggests a simple pathophysiological mechanism for the onset and the progression of the degeneration: dystonic gene action would affect perinatally specific classes of sensory receptors, producing the degeneration of the nerve terminals and, progressively, the cell death of the sensory ganglion cells at their origin. This retrograde death, which results in the massive and early deafferentation of spinocerebellar neurons, would provoke, trans-neuronally, the impairment of these second order sensory neurons and the progressive degeneration of the spinocerebellar system. The close resemblance of the neuropathology of the mutant mouse to Friedreich's ataxia (the commonest form of human degenerative ataxic disorders) allows one to suppose that the dystonic mouse may be an optimal animal model for studying the genetic basis and the pathophysiological mechanisms of this form of human ataxia.
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PMID:Pathologic changes in the CNS of dystonia musculorum mutant mouse: an animal model for human spinocerebellar ataxia. 321

When fertilized eggs (50 g) are injected on day 1 with 100 mumol taurine (0.2 ml), 15-day-old embryos exhibit increased taurine content in heart and brain. Lethal toxicity was no higher than with equimolar injections of NaCl (50 mumol) or valine (100 mumol) of the same volume. That same dose of taurine injected either on embryonic day 1 or 7 produced in hatchlings a typical syndrome of ataxia, reduced muscle strength and motor incoordination. When injected on embryo day 15 (E15) most chicks appeared incapable of pecking out of the egg, and the resulting delay in hatching, if if did occur, precluded presuming that the poor condition of such chicks was exclusively due to the late taurine injections. In view of the tendency of Friedreich's ataxia patients to exhibit increased alimentary absorption of taurine, and to demonstrate an excessive accumulation of taurine in the cerebellum and heart tissue on autopsy, fetal exposure to high taurine levels or neonatal high taurine milk ingestion may, by analogy, contribute to the slowly progressing disease process.
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PMID:Embryonic exposure to high taurine: a possible nutritional contribution to Friedreich's ataxia. 322 74

An inbred family is described in which three sibs have congenital glaucoma and two of them also have an ataxia indistinguishable from Friedreich's ataxia. The association between these two disorders has not previously been reported. The genetic mechanisms of this association are discussed.
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PMID:Association of an ataxia indistinguishable from Friedreich's ataxia and congenital glaucoma in a family: a new syndrome. 335 91

Friedreich's ataxia (FA), a hereditary disease with degenerative changes localized chiefly in the spinal cord and cerebellum, is characterized clinically by ataxia, absence of tendon reflexes, loss of proprioceptive sensation, and extensor plantar responses. There are only a few reports on anesthesia for patients with FA. General but not regional anesthesia is usually recommended because a persistent aggravation of symptoms is feared with regional anesthesia. We report a 31-year-old gravida 1 para 0 patient with FA who was admitted at the 20th week of gestation for induced abortion, curettage and tubal ligation. Familial FA was diagnosed at the age of 15, and since the age of 23 the patient had been confined to a wheelchair. As she strictly declined general anesthesia, epidural analgesia with 0.125% bupivacaine and morphine was used for 14 h, during which period induced abortion by prostaglandin was performed. This was followed by epidural anesthesia with 2% lidocaine for curettage and laparoscopic tubal ligation. A reduced dosage of local anesthetics, as commonly recommended during pregnancy, was used. Neurological consultation before and 1 day, 6 weeks, and 7 months after operation revealed no undue exacerbation of symptoms. Our case report suggests that epidural anesthesia can safely be administered to a patient with FA.
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PMID:[Epidural anesthesia in a patient with Friedreich's ataxia]. 340 69


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