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)

Spontaneous language of 18 patients suffering from Huntington's disease and 15 dysarthric controls suffering from Friedreich's ataxia were investigated. In addition, language functions in various modalities were assessed with the Aachen Aphasia Test (AAT). The Huntington patients exhibited deficits in the syntactical complexity of spontaneous speech and in the Token Test, confrontation naming, and language comprehension subtests of the AAT, which are interpreted as resulting from their dementia. Errors affecting word access mechanisms and production of syntactical structures as such were not encountered.
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PMID:On the neurolinguistic nature of language abnormalities in Huntington's disease. 245 41

Dysarthria in Friedreich Ataxia (FA) is difficult to quantify. This study evaluated a series of performance measures for speech in 22 patients with genetically confirmed FA and 16 age-matched controls. Tests included the PATA examination, the PATAKA examination, the Oral Motor component of the Boston Aphasia examination, the Boston Cookie Theft description task, and the Assessment of Intelligibility of Dysarthric Speech. All measures, except the Cookie theft description task, demonstrated significantly lower scores for patients with FA when compared with controls and correlated with measures of disease progression. Thus, four of five measures capture speech dysfunction in FA and may provide feasible, inexpensive, quantitative testing for therapeutic monitoring in FA.
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PMID:Clinical measures of dysarthria in Friedreich Ataxia. 2059 23