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 authors report the clinical review of 20 childhood cases with Friedreich's ataxia. The mean age at onset of symptoms was 6.1 years. The main presenting symptom was abnormal gait (100%). Ataxia of gait and limbs and depressed or absent tendon reflexes were found in all cases. Clinical findings are in accordance with the findings of Harding and Werdelin. Neurophysiological studies (especially sensory) are important in the confirmation of the diagnosis. Of the 10 cases in which sensory nerve conduction velocity measurements were performed, 7 had absent sensory action potentials, 2 had decreased potentials and one was normal. In our study, it is shown that in patients having ataxic gait, ataxia of limbs and tendon reflexes depression or loss, Friedreich's ataxia may be diagnosed with the help of electrophysiological studies.
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PMID:Friedreich's ataxia: a clinical review of 20 childhood cases. 340 87

Amantadine hydrochloride (AH) was orally administered to 16 patients with Friedreich's ataxia. We evaluated patient response with the functional ataxia scoring scale and calculated a total disability score. The mean percent improvement of the total disability score was 29.5%; for ambulatory patients alone it was 45.5%. No significant side effects were encountered. AH appears to be a safe and effective symptomatic treatment of Friedreich's ataxia.
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PMID:The treatment of Friedreich's ataxia with amantadine hydrochloride. 229 76

Twenty-seven patients with autosomal recessive ataxia were studied. According to diagnostic criteria proposed by Quebec Cooperative Study, fifteen cases were diagnosed as Friedreich's ataxia. The remaining twelve cases showed clinical features of the "Early onset cerebellar ataxia with retained reflexes". The clinical differences between the two diseases are discussed. The high percentage of patients with "early onset cerebellar ataxia" is underlined.
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PMID:[Recessive hereditary ataxia with early onset. Clinical study of 27 cases]. 344 70

A simplified classification of the spinocerebellar degenerations is proposed. Axonal ataxias include Friedreich's ataxia and other conditions involving, primarily, neurons with very long axons. Multiple system degenerations include the various olivopontocerebellar atrophies and related disorders. Ataxic encephalopathies are diffuse diseases of the nervous system in which ataxia is a prominent clinical feature. Several lines of data suggest that mitochondrial damage is a common mechanism in the spinocerebellar degenerations. Reasonable pathophysiological mechanisms can be invoked, linking mitochondrial damage to the observed pathologies (including the many cases of intermediate on variant forms).
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PMID:Mitochondrial dysfunction and spinocerebellar degenerations. 352 Apr 1

Fifteen cases of Friedreich's ataxia (FA) were examined using an otoneurological test battery that included tone and speech audiometry, the synthetic sentence identification (SSI) test, impedance audiometry, cortical auditory-evoked response (CAER), brainstem auditory-evoked response (ABR) and electronystagmography. We also obtained ABR and CAER findings in 2 cases of familial spastic paraplegia, in 5 cases of Charcot-Marie-Tooth disease and 6 in cases of atypical FA of uncertain classification. The results of puretone and impedance audiometry were normal in all cases. ABR could not be elicited in 11 FA patients and were abnormal at higher intensity levels in the remaining 4 patients. In these 4 cases, however, the latencies were normal. ABR did not show any marked abnormalities in patients with familial spastic paraplegia or Charcot-Marie-Tooth disease. CAERs were normal in all 28 patients. ABRs tended to be absent with the progression of FA. ABR thresholds were correlated with the Inherited Ataxias Clinical Rating Scale score, which is an index of the severity of the illness. ABRs contributed to the diagnosis or to excluding FA in patients with an atypical clinical picture. The absence of ABRs and the normal latencies of the waves, when evoked, agree with the pathological finding of a reduction of fibers in the spinal root ganglion. SSI abnormalities and vestibular findings agree with this hypothesis.
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PMID:Otoneurological findings in Friedreich's ataxia and other inherited neuropathies. 370 40

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

A clinical and polygraphic sleep study was carried out in nine patients affected by heredoataxia (three by sporadic olivopontocerebellar ataxia (SOPCA), three by early onset cerebellar ataxia (EOCA) and three by Friedreich's ataxia). None of the patients complained about subjective sleep complaints. Polysomnographic findings showed a decrease in REM time in all the patients considered and a lower REM density in SOPCA and EOCA. A pattern of obstructive sleep-apnea was found in one case of SOPCA.
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PMID:Polygraphic sleep patterns in heredoataxia: a study of nine cases. 376 34

A 30-year-old woman was thought to have Friedreich's disease because of progressive ataxia, dysarthria, and titubation from age 3 years. Her diet was normal, and there were neither symptoms nor laboratory evidence of liver disease or fat malabsorption. Serum vitamin E content and the ratio of serum vitamin E to total serum lipid were very low, but serum vitamin A, cholylglycine, and lipid levels were normal, as was an oral vitamin E tolerance test. Muscle biopsy showed the lysosomal inclusions of vitamin E deficiency. Mitochondria had normal oxidative phosphorylation using polarographic assays. The cause of her vitamin E deficiency was unknown.
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PMID:Friedreich's disease: V. Variant form with vitamin E deficiency and normal fat absorption. 379 40

Brainstem auditory evoked responses were recorded in 18 patients with spinocerebellar ataxia, seven with Friedreich's ataxia, four with late-onset cerebellar degeneration, and seven with olivopontocerebellar atrophy. All patients had normal hearing. BAERs were abnormal in 10 cases (58%). Five of the seven patients with Friedreich's ataxia (71%) had grossly abnormal BAERs with wave I only being identified. Five of the patients with olivopontocerebellar atrophy (71%) had abnormal BAERs, whereas all patients with cerebellar degeneration had normal BAERs. The results indicate abnormalities of the brainstem auditory pathways in patients with spinocerebellar ataxias and show that the test is of value in the differential diagnosis of this group of disorders.
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PMID:Brainstem auditory evoked responses in hereditary spinocerebellar ataxias. 387 Apr 33

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


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