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)

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

Friedreich's ataxia is a neurodegenerative disease due to frataxin deficiency, and thus, drugs increasing the frataxin amount are excellent candidates for therapy. By screening Gene Expression Omnibus profiles, we identified records showing a frataxin response to the peroxisome proliferator-activated receptors gamma (PPAR-gamma) agonist rosiglitazone. We decided to investigate the effect of the PPAR-gamma agonist Azelaoyl PAF on the frataxin protein and mRNA expression profile. We treated human neuroblastoma cells SKNBE and primary fibroblasts from skin biopsies from Friedreich's ataxia (FRDA) patients and healthy controls with the PPAR-gamma agonist Azelaoyl PAF. We show in this paper for the first time that Azelaoyl PAF significantly increases the intracellular frataxin levels by twofold in the neuroblastoma cell line SKNBE and fibroblasts from FRDA patients and that Azelaoyl PAF increases frataxin protein through a transcriptional mechanism. PPAR-gamma agonist Azelaoyl PAF increases both messenger RNA and protein levels of frataxin. We hypothesize that PPAR-gamma agonists could play a role in the treatment of FRDA, and our results offer the logical bases to further investigate the usefulness of this group of agents for the treatment of the FRDA.
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PMID:PPAR-gamma agonist Azelaoyl PAF increases frataxin protein and mRNA expression: new implications for the Friedreich's ataxia therapy. 1910 5