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)

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.
 ...
PMID:The contribution of evoked potentials in the functional assessment of the somatosensory pathway. 22 50

Electrophysiological and pathological studies have been performed on the peripheral nerves of patients with spinocerebellar degenerations. In Friedreich's ataxia there is impairment of sensory conduction and mild slowing of motor conduction which may be correlated with loss of large diameter fibres in the sural nerve. The abnormalities in Friedreich's ataxia are present early, in the first decade. In hereditary spastic paraparesis the nerve conduction studies and sural nerve biopsy are normal. In the other spinocerebellar degeneration and a mild loss of myelinated fibres in the sural nerve. However the abnormalities differ from those seen in Friedreich's ataxia.
 ...
PMID:Electrophysiological and pathological studies in spinocerebellar degenerations. 102 97

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.
 ...
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

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)
 ...
PMID:[Analysis of follow-up survey in spinocerebellar degeneration]. 275 38

Pattern-reversal visual evoked potentials (PRVEP) were evaluated in 24 patients from 18 separate families with various forms of hereditary ataxia and spinal degeneration. Abnormally delayed latencies were found in 3 of 5 patients with classic Friedreich's ataxia, 1 patient with dominant spastic paraparesis, and 1 patient with recessive dentatorubrospinal degeneration. Fifteen other patients with several different types of dominant and recessive hereditary ataxias had normal PRVEP latencies, including 1 patient with bilateral optic atrophy. Testing of PRVEP will be useful in the clinical delineation of the genetic ataxias and spinal degenerations, and, when interpreted with caution, should be an additional variable evaluated in the differentiation of these disorders from multiple sclerosis.
 ...
PMID:Pattern-reversal visual evoked potentials in the hereditary ataxias and spinal degenerations. 722 89

We have studied a man with an atypical form of Friedreich's ataxia (FRDA), who presented at age 26 years with a 2-year history of unsteadiness and clumsiness. The predominant feature of his initial neurological examination was a spastic paraparesis, along with a mild distal weakness and hyperreflexia of the upper limbs. He also displayed limb ataxia. Frataxin GAA repeat sizes were 1,040/690. This unusual FRDA presentation is not dissimilar to that of Acadian spastic ataxia.
 ...
PMID:Friedreich's ataxia presenting as adult-onset spastic paraparesis. 1073 7

In mammalian cells, mitochondria provide energy from aerobic metabolism. They play an important regulatory role in apoptosis, produce and detoxify free radicals, and serve as a cellular calcium buffer. Neurodegenerative disorders involving mitochondria can be divided into those caused by oxidative phosphorylation (OXPHOS) abnormalities either due to mitochondrial DNA (mtDNA) abnormalities, e.g., chronic external ophthalmoplegia, or due to nuclear mutations of OXPHOS proteins, e.g., complex I and II associated with Leigh syndrome. There are diseases caused by nuclear genes encoding non-OXPHOS mitochondrial proteins, such as frataxin in Friedreich ataxia (which is likely to play an important role in mitochondrial-cytosolic iron cycling), paraplegin (possibly a mitochondrial ATP-dependent zinc metalloprotease of the AAA-ATPases in hereditary spastic paraparesis), and possibly Wilson disease protein (an abnormal copper transporting ATP-dependent P-type ATPase associated with Wilson disease). Huntingon disease is an example of diseases with OXPHOS defects associated with mutations of nuclear genes encoding non-mitochondrial proteins such as huntingtin. There are also disorders with evidence of mitochondrial involvement that cannot as yet be assigned. These include Parkinson disease (where a complex I defect is described and free radicals are generated from dopamine metabolism), amyotrophic lateral sclerosis, and Alzheimer disease, where there is evidence to suggest mitochondrial involvement perhaps secondary to other abnormalities.
 ...
PMID:Mitochondria and degenerative disorders. 1157 22

Hereditary ataxias encompass a series of syndromes basically characterised by progressive cerebellar ataxia of slow clinical course (occasionally, periodic ataxia or spastic paraparesis) and primary spinocerebellar degeneration. The prevalence ratio of these syndromes in Spain is 20 cases per 100,000 inhabitants. Initially the ataxias were classified on the basis of clinicopathological criteria. Starting from the seminal papers by Harding published 20 years ago, a clinicogenetic classification was introduced that has given way to the present molecular classification. There have been localised about forty loci. In dominant ataxias the most frequent molecular defect is a dynamic CAG expansion responsible for abnormal polyglutamine tract transcription. The identification of such molecular defect has made it possible detection of gene carriers in clinical practice, this involving both presymptomatic and prenatal diagnosis; moreover, such molecular discoveries have contributed to develop a new pathogenetic era. A homozygous and intronic GAA expansion is the molecular basis of Friedreich's ataxia. This finding has also made it possible a molecular diagnosis in clinical practice. Molecular studies have demonstrated that hereditary spastic paraplegia is another heterogeneous genetic disorder.
 ...
PMID:[Hereditary ataxias and paraplegias: a clinicogenetic review]. 1183 96

A 55-year-old woman presented with a 10-yeai history of a progressive gait disorder. Her examination showed a spastic paraparesis with brisk deep tendon reflexes, but only minimal limb ataxia and no evidence for a sensory neuropathy The patient was found to be homozygous for the GAA trinucleotide repeal diagnostic of Friedreich's ataxia The presentation of Friedreich's ataxia as a spastic paraparesis reinforces the appreciation of the variable phenotype of this disease.
 ...
PMID:Late-Onset Friedreich's Ataxia Presenting as a Spastic Paraparesis. 1907

Both general neurologists and neurologists with a broad spectrum of subspecialty interests are often asked to evaluate patients with disorders of the spinal cord. Over the past decade, there have been significant advances in our understanding of a wide spectrum of immune-mediated, infectious, metabolic, hereditary, paraneoplastic, and compressive myelopathies. Advances have been made in the classification and management of spinal vascular malformations. Aortic reconstruction surgery has led to an increased incidence of spinal cord stroke. It is important to recognize a dural arteriovenous fistula as a cause of progressive myelopathy. In the past, noninfectious inflammatory myelopathies have frequently been categorized as idiopathic transverse myelitis. Advances in neuroimaging and discovery of a serum antibody marker, neuromyelitis optica-immunoglobulin G (NMO-IgG), have allowed more specific diagnoses, such as multiple sclerosis and neuromyelitis optica. Abnormalities suggestive of demyelinating disease on brain magnetic resonance imaging (MRI) are known to be highly predictive of conversion to multiple sclerosis in a patient who presents with a transverse myelitis ("clinically isolated syndrome"). Acquired copper deficiency can cause a clinical picture that mimics the subacute combined degeneration seen with vitamin B (12) deficiency. A history of bariatric surgery is commonly noted in patients with copper deficiency myelopathy. Genetics has advanced our understanding of the complex field of hereditary myelopathies. Three hereditary myelopathy phenotypes are recognized: predominantly cerebellar (e.g., Friedreich's ataxia), predominantly motor (e.g., hereditary spastic paraparesis), and a leukodystrophy phenotype (e.g., adrenomyeloneuropathy). Evaluation of myelopathies when no abnormalities are seen on spinal cord imaging is a commonly encountered diagnostic challenge. This article presents some "clinical pearls" in the evaluation and management of spinal cord diseases in context of these recent developments.
 ...
PMID:Pearls: myelopathy. 2012 80


1 2 Next >>