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)

Cranial computerized tomography was carried out in 69 patients with cerebellar ataxia (45 with Friedreich's ataxia, 4 with Marie's spastic ataxia, 14 with cerebellar atrophy, and one patient with olivo-pontocerebellar atrophy). In CT scans cerebellar atrophy is found to be of various localisation and partially of characteristic distribution. CT, therefore, greatly helps to distinguish different types of cerebellar and spino-cerebellar atrophy and also distinguishes separate cerebellar atrophy of various origin from other diseases like multiple sclerosis.
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PMID:[Computerized tomography in atrophy of the posterior fossa (author's transl)]. 744 80

Recently, a new syndrome of early onset cerebellar ataxia with hypoalbuminemia (EOCA-HA) was reported in Japan. The clinical features of EOCA-HA overlap with those of Friedreich's ataxia (FA), and primary hypoalbuminemia is a characteristic laboratory finding of this syndrome. Genetic linkage analysis of EOCA-HA including this newly reported family revealed that the gene for EOCA-HA is located on the long arm of chromosome 9 as FA. However, several recombination events were observed between D9S15 in EOCA-HA, whereas no recombination events were seen in FA. We report on two siblings with EOCA-HA and discuss the clinical and laboratory features. The patients were a 25-year-old man (patient 1) and a 23-year-old man (patient 2). Their parents marriage was non-consanguineous. The mode of inheritance is compatible with autosomal recessive mode. Clinically, they showed cerebellar ataxia as the initial symptom in the late infantile period and subsequently showed choreoathetosis and ocular motor apraxia at the age of approximately fifteen years. Deep tendon reflexes were reduced in late infancy and finally disappeared. Amyotrophy and sensory impairment of the legs developed at approximately twenty. Abnormal electrocardiogram and diabetes mellitus were not observed. On X-ray CT scan or MRI, the cerebella of both patients were mildly atrophic. Clinical features in these siblings were indistinguishable from those of ataxia telangiectasia, but immunodeficiency syndrome was absent.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Siblings of early onset cerebellar ataxia with hypoalbuminemia]. 778 Dec 24

Perturbations of precision grip were tested in 7 patients with Friedreich's ataxia (FA) and 11 patients with late-onset cerebellar ataxia (CA). Subjects were instructed to hold a small compressible manipulandum between thumb and index finger and to resist any perturbation of maintained finger position. A sudden increase of load induced a displacement of fingers until this was stopped by subjects' active intervention. The amount of initial displacement emerged as a highly sensitive parameter to differentiate the clinical subgroups: Responses in FA patients were missing or massively delayed, whereas displacements in CA patients were normal or only moderately abnormal. This discrimination of impaired hand function in FA and CA patients has not been possible by using only tasks of isometric grip force control. We concluded that our task relies more on intact sensory afferents, which are known to be impaired in FA, than on cerebellar function. In a second task the stiffness of the maintained grip was determined. On the average, preresponse stiffness was lower in FA patients as compared with CA patients and normal controls. However, stiffness appeared to be an independent parameter that did not influence the amount of displacement in the perturbation task.
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PMID:Perturbation of precision grip in Friedreich's ataxia and late-onset cerebellar ataxia. 784 6

Linkage studies with DNA polymorphic markers allowed to map the loci of three inherited ataxia and to explore genetic heterogeneity in inherited ataxia in general. The locus of Friedreich ataxia, the most frequent of all recessive ataxias, has been mapped in 9q13-q21. In addition, Friedreich ataxia is an homogeneous genetic entity since all families from all populations tested (mainly European, North-American and from the Mediterranean basin) show linkage with this locus. But the severity of the disease varied in a few families. A form of recessive ataxia associated with a selective and severe serum vitamin E deficiency, which frequently presents clinically like typical Friedreich ataxia, is not linked to 9q13-q21 markers. The autosomal recessive spastic ataxia from Charlevoix-Saguenay (a region of Quebec) is also not linked to these markers. Both entities are therefore distinct genetically from Friedreich ataxia. Among dominant ataxias, the most important group is olivo-ponto-cerebellar ataxia which is heterogeneous and for which any classification is hindered by important intra-familial variability. This group corresponds to at least three distinct loci, two of which have been mapped, one in 6p23-p24, and the other, more recently, on chromosome 12. Prenatal and presymptomatic diagnosis based on linked markers can be made for the three mapped ataxias, but only in families with an affected individual for whom the diagnosis has been ascertained by through clinical investigation or by linkage analysis if the family is large enough (mainly for the dominant diseases). Linked markers are also the first tools for the search of the defective genes by positional cloning.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Molecular genetics and familial ataxia]. 809 Oct 82

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

A multimodal electrophysiological study, including median nerve somatosensory evoked potentials (SSEPs), motor cortical stimulation (CS) and brainstem evoked potentials (BAEPs), was performed on 34 patients with hereditary ataxias (HAs): 15 with Friedreich's disease (FD), 10 with early onset cerebellar ataxia (EOCA), and 9 with autosomal dominant cerebellar ataxia (ADCA). A higher incidence of abnormal central motor conduction was observed in FD than in EOCA patients, but was never observed in ADCA. A relationship between central motor conduction abnormalities and disease duration and clinical impairment was found only in FD patients. All FD patients showed severe impairment of the SSEPs that was not related to disease duration. In EOCA patients, less frequent and more variable SSEP abnormalities were observed. The lowest incidence of central SSEP abnormalities was observed in ADCA. The BAEP findings in all 3 groups of patients (but particularly those with EOCA) suggest prevalent brainstem damage.
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PMID:Evoked potentials in inherited ataxias: a multimodal electrophysiological study. 820 44

MRI of the brain was performed in 53 patients with a variety of degenerative ataxias and related disorders and 96 control subjects. Atrophy of intracranial structures was not seen in patients with the pure type of hereditary spastic paraplegia, or in early cases of Friedreich's ataxia. In advanced Friedreich's ataxia there was atrophy of the vermis and medulla. The MRI features of early onset cerebellar ataxia with retained reflexes were variable, and suggest heterogeneity. In autosomal dominant cerebellar ataxias, most patients had cerebellar and brainstem atrophy, probably reflecting the pathological process of olivopontocerebellar atrophy; there was no clearly defined group with both clinical and imaging features of isolated cerebellar involvement. The MRI abnormalities in idiopathic late onset cerebellar ataxia were predominantly those of cerebellar and brainstem atrophy or pure cerebellar atrophy. The clinical and imaging features of brainstem abnormalities were discordant in several patients. Pure cerebellar atrophy was associated with slower progression of disability. Cerebral atrophy was common in the late onset ataxias. Cerebral white matter lesions, although usually few in number, were observed in significantly more patients than controls, particularly those aged over 50 years.
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PMID:Magnetic resonance imaging in degenerative ataxic disorders. 830 5

A review concerning the characteristics of the cerebellar serotoninergic system is presented. In rat, cat and oppossum, the perikarya of origin are located in the brain stem raphe nuclei and in other brainstem structures. The projections to the cerebellar layers and deep nuclei include synaptic connections, but also non synaptic terminals, especially in a diffuse cortical plexus. Serotoninergic receptors have been described: 5-HT1B in the molecular layer and 5-HT2 in the inferior olive. Serotonin exerts neurophysiological effects on several target cells, directly or indirectly, presynaptically or postsynaptically. A modulatory effect on Purkinje cells is well documented. In thiamine deprived animals, a specific serotoninergic cerebellar syndrome includes a selective degeneration of the serotoninergic cerebellar system, an increase of the 5-HIAA cerebellar values and an exaggerated serotoninergic turnover. In human heredoataxias (Friedreich's ataxia and cerebellar cortical atrophy), serotoninergic disturbances have been observed in the CSF, including low 5-HIAA values and an increased serotoninergic turnover. Therapeutic results have been obtained with L-5-HTP, a precursor of serotonin, in several conditions presenting cerebellar ataxia. L-5-HTP resistance of olivopontocerebellar atrophies may be explained by the destruction of serotonin-sensitive target cells, especially Purkinje cells.
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PMID:The cerebellar serotoninergic system and its possible involvement in cerebellar ataxia. 833 97

We used magnetic resonance imaging (MRI) to study brain and spinal cord morphology in hereditary and idiopathic ataxia. Our interest was in whether the classical neuropathologic categories--cerebellar cortical atrophy (CCA), olivopontocerebellar atrophy (OPCA), and spinal atrophy (SA)--could be identified in vivo and which clinical phenotype corresponded to which morphologic category. To this end, we measured the size of the cerebellar vermis, cerebellar hemispheres, fourth ventricle, middle cerebellar peduncles, basis pontis, medulla oblongata, and cervical spinal cord on T1-weighted images of 61 patients and 24 healthy controls. Five patients with Friedreich's ataxia (n = 7) and all with late-onset Friedreich's ataxia (n = 3) had SA without major involvement of the brainstem or cerebellum. Morphologic findings in patients with early-onset cerebellar ataxia with retained tendon reflexes (n = 11) were heterogeneous: six patients had MRI findings compatible with CCA, and two patients had a combination of SA and CCA. The three remaining patients had an atypical pattern of atrophy. Similarly, the morphologic changes in patients with autosomal-dominant cerebellar ataxia with additional noncerebellar symptoms (ADCA-I; n = 13) were nonuniform: atrophic changes typical for CCA, OPCA, or SA were each present in one case, four patients had a combination of OPCA and SA, and the remaining patients could not be assigned to one of the morphologic categories. In autosomal-dominant cerebellar ataxia with a pure cerebellar syndrome (ADCA-III; n = 6), all patients except one had CCA.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Magnetic resonance imaging in hereditary and idiopathic ataxia. 823 80

We performed a double-blind cross-over study with amantadine hydrochloride in 12 patients with Friedreich's disease and 2 with autosomal dominant cerebellar ataxia. Patients were randomly assigned to a placebo-amantadine or amantadine-placebo sequence. The interval between the treatments was two weeks. Patients were graded according to a functional ataxia scoring scale and videotaped in basal conditions and 90 min after a single oral dose of 100 mg amantadine or placebo. Three evaluators independently scored the videotapes. Statistical analysis showed no significant effect of amantadine in Friedreich's disease.
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PMID:A double-blind cross-over trial of amantadine hydrochloride in Friedreich's ataxia. 846 30


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