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

To test the validity and reliability of the scale for the assessment and rating of ataxia (SARA) in Friedreich ataxia (FRDA). SARA is limited to eight items and can be performed rapidly. Ninety-six patients with a molecular genetic diagnosis of FRDA were rated using three different clinical scales, the FRDA Rating Scale (FARS), the International Cooperative Ataxia Rating Scale (ICARS), and SARA. Despite considerable discrepancies in scale size and subscale structure, SARA total scores were significantly correlated with ICARS (r = 0.953, P < 0.0001) and FARS (r = 0.938, P < 0.0001) total scores. SARA total scores also correlated with the activities of daily living (ADL, r = 0.929, P < 0.0001). Although originally developed for the use in dominantly inherited ataxias, which are primarily ataxias of the cerebellar type, SARA can also be used successfully to assess afferent ataxia, which is the predominant form in FRDA. Because SARA is characterized by high interrater reliability and practicability, SARA is applicable and well suited forclinical trials of FRDA.
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PMID:Comparison of three clinical rating scales in Friedreich ataxia (FRDA). 1956 66