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 genetic analysis of 101 genealogical trees of families with spinocerebellar heredo-degeneration enabled the authors to specify the transmission inheritance for each clinical type. Autosomic recessive transmission has been observed for Friedreich's ataxia (68 out of 69 families), Pierre-Marie's heredo-ataxia (15 families) and familial spastic paraplegia (2 families). A dominant mode of transmission has been observed in 13 families affected by familial spastic paraplegia (Strumpell-Lorrain) and in only one family with Friedreich's ataxia (an intermediate or incomplete form). It has also been observed that the consanguinity rate among this group of families is very high compared with that of the general tunisian population (25%). Marriage between cousins occurs in 75% of the cases of Friedreich's ataxia, in 78% of the cases of Pierre-Marie's heredo-ataxia and in only 61% of familial spastic paraplegia of Strumpell-Lorrain. The authors have come to the conclusion that the recessive autosomic transmission of the spino-cerebellar heredo-degenerative diseases are closely related to a high consanguinity rate.
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PMID:[Genetic study of spinocerebellar hereditary degenerations in Tunisia. Role of consanguinity in their occurrence]. 376 Aug 30

An intensive search over a two-year period for cases of cerebellar and spinocerebellar degenerations in Benghazi, Libya, made through polyclinics, university hospitals and a centre for the handicapped, revealed a total of 52 patients, among whom 30 were index cases; the remainder were detected on family study. Twenty-five patients lived in Benghazi, giving a crude prevalence of 4.8/100 000 population. There were 24 patients (10 families) with hereditary spastic paraplegia (HSP), 13 (9 families) with early onset cerebellar ataxia with retained tendon reflexes (EOCA), 3 with Friedreich's ataxia (FA), 5 (1 family) with late onset cerebellar ataxia (LOCA) with pigmentary retinal degeneration and autosomal dominant inheritance, 6 single cases of LOCA and 1 with ataxia telangiectasia. There were 14 families with definite autosomal recessive inheritance and only 2 with dominant transmission. The large family size (average of 6.2 children per married woman in the patient group) and the high rate of consanguineous marriages contribute to the high incidence of familial cases, especially those with autosomal recessive inheritance. Nerve conduction studies were normal in HSP and abnormal in EOCA and FA. Computed tomographic scans revealed atrophy of the brainstem and cerebellum in 3 cases of EOCA and 2 with LOCA. No indigenous forms of the disease were observed and the clinical features differed little from the descriptions in literature. However, the relative rarity of patients with FA, in comparison with other types of hereditary ataxias, is striking.
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PMID:Prevalence and pattern of spinocerebellar degenerations in northeastern Libya. 407 75

Pattern-reversal visual, auditory and somatosensory evoked potentials were recorded from 11 patients with hereditary cerebellar ataxia, 13 with familial spastic paraplegia and 7 with Friedreich's ataxia. In all the 31 patients the conduction velocity along the median and tibial nerves to the level of the spinal cord was normal. Five of the 7 patients with Friedreich's ataxia had reduced sural nerve sensory potentials. There was electrophysiological evidence of malfunction along one or several pathways within the CNS in 8 of the 11 patients with cerebellar ataxia, 4 of the 13 with familial spastic paraplegia, and in all 7 cases of Friedreich's ataxia. The increase in latency of visual, auditory and somatosensory evoked cortical potentials is attributed to nerve fibre loss in the central pathways with associated slowing of conduction.
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PMID:Visual, auditory and somatosensory pathway involvement in hereditary cerebellar ataxia, Friedreich's ataxia and familial spastic paraplegia. 616 5

We have investigated brainstem and cortical auditory responses (BAERs and CAERs) in 16 cases of Friedreich's ataxia (FA) and have compared the findings with those obtained in 2 cases of familial spastic paraplegia (FSP), in 5 cases of Charcot-Marie-Tooth disease (CMTD), and in 6 cases of atypical FA of uncertain classification. BAERs could not be elicited in 11 FA patients and constantly disappeared at a higher intensity threshold than in normal subjects in the remaining 5 patients. BAERs were normal or only slightly abnormal in FSP and CMTD patients. CAERs were normal in all 29 patients. BAERs tended to disappear with the progression of FA and BAER thresholds were correlated with the Inherited Ataxias Clinical Rating Scale score, which is an index of the severity of illness. BAERs contributed to the diagnosis, or exclusion of FA in patients with an atypical picture. It is suggested that in FA myelinated fibers in the spiral ganglion are partially affected, resulting in the decrease of wave amplitude such as occurs for peripheral sensory potentials.
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PMID:Specific impairment of BAER's in Friedreich's ataxia. Auditory evoked responses in clinical evaluation and differential diagnosis. 647 Jul 43

The introduction of isoelectrofocusing on polyacrylamide gel followed by direct immunofixation, in the analysis of CSF proteins, emphasized the interest in transferrin examination, mainly in order to find eventual abnormalities in patients with neurological diseases. Stibler (1979), using these techniques, demonstrated the presence in CSF of two subtypes of transferrin C, called C1 and C2, transmitted by autosomal codominant inheritance, according to the C1, C2 and C2-1 phenotypes. The rather frequently occurring variant of transferrin in CSF is the C2-1 subtype: a double banded pattern, which is focused at pH 5.9, consisting of two very closely spaced bands with a pI difference of less than 0.1. This transferrin pattern is peculiar to CSF and is absent in the serum of the same subjects. This subtype of transferrin has been observed in various neurological disorders, as well as in healthy populations, by several investigators. They also found a much higher incidence of double tau-transferrin in inherited degenerative neurological diseases, such as Friedreich's ataxia and hereditary spastic paraplegia, than in neurological ailments without a hereditary component. The aim of our study is to verify the incidence of the C2-1 variant of transferrin in a control group and in a mixed group of neurological patients, with particular attention to hereditary degenerative pathologies.
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PMID:CFS transferrin in various neurological diseases. 718 34

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

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

Developments in the field of Huntington's disease have focused on the potential benefits of predictive testing. Markers have been described for autosomal dominant cerebellar ataxia and for certain subtypes of Friedrich's ataxia. Argentophilic neuronal and glial inclusions appear to be the first specific pathologic hallmark of multiple system atrophy. "Pure" hereditary spastic paraplegia is not a multisystem disorder of the central nervous system, but a monomorphic and stereotyped disease. Advances in Tourette's syndrome are limited because the presumed gene eludes identification. A new type of myoclonus, propiospinal myoclonus, has been described. Clinical and electrophysiologic criteria for defining primary orthostatic tremor have been proposed. Understanding of the neurophysiologic substrate of essential tremor and myoclonus is improving. New neurologic disorders presenting clinically with prominent movement disorder continue to be described.
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PMID:Choreas, hereditary and other ataxias, tics, myoclonus, and other movement disorders. 850 6

The discovery of unstable DNA sequences as the cause of genetic disease is a fascinating new area in human genetics, raising a number of important questions addressing the understanding of both the mechanisms and the effects of this new type of mutation. Trinucleotide repeat expansion mutations have been identified in a number of neurodegenerative diseases, including spinal and bulbar muscular atrophy (SBMA), fragile X syndrome (FRAXA and FRAXE), myotonic dystrophy (DM), Huntington's disease (HD), spinocerebellar ataxia types 1, 2, 3, 6, 7 (SCA1, SCA2, SCA3, SCA6, SCA7), dentatorubral-pallidoluysian atrophy (DRPLA), Friedreich's ataxia (FRDA) and autosomal dominant pure spastic paraplegia (ADPSP). They have been traced to genetic variation in the length of (CTG)n/(CAG)n, (CGG)n/(CCG)n, or (GAA)n/(TTC)n triplet repeats in DNA. In normal individuals these loci contain a short length of triplet repeats (usually 5-40), which is polymorphic within the population. Increases in the lengths of the translated triplet repeats to 40-100 are associated with disease symptoms, whereas the untranslated triplet repeats to 200-3000 are associated with the disease. We concentrated on repeat expansions in myotonic dystrophy. In this symposium, we outline the molecular aspects of myotonic dystrophy including DNA diagnosis and anticipation, and review the similarities and differences among these triplet repeat diseases.
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PMID:[Genomic instability and neurodegenerative disease]. 1006 64

A growing number of hereditary neurodegenerative disorders have been found to be caused by expansion of trinucleotide repeats. A smaller number of diseases such as fragile X syndrome, myotonic dystrophy, and Friedreich's ataxia, have been found to be due to expansions in non-coding DNA. In a large group of diseases, the expansion consists of CAG repeats in the coding region of the gene, producing an expanded polyglutamine sequence in the protein. Nine diseases have so far been identified as belonging to this group: Huntington's disease, spinobulbar muscular atrophy (SBMA), dentatorubral pallidoluysian atrophy (DRPLA), autosomal dominant "pure" spastic paraplegia (ADPSP), and five forms of spinocerebellar ataxia (SCA 1,2,3,6 and 7). Except for SBMA, all of the CAG repeat disorders are characterised by autosomal dominant heredity and anticipation (i.e., earlier onset age and increasing severity in successive generations). The mutated protein causes disease via an as yet unidentified gain-of-function mechanism in specific subsets of neurones. Today, DNA analysis permits the diagnosis of a trinucleotide disease in individual cases.
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PMID:[Growing genes cause neurological diseases]. 1008 35


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