Klockgether T, Chamberlain S, Wüllner U, Fetter M, Dittmann H, Petersen D, Dichgans J
Department of Neurology, University of Tübingen, Germany.
Arch Neurol. 1993 Aug;50(8):803-6. doi: 10.1001/archneur.1993.00540080014006.
OBJECTIVE--To clarify the nosological classification of late-onset Friedreich's ataxia (LOFA), ie, patients who have later onset of Friedreich's ataxia (FRDA), often after 25 years of age. DESIGN--Comparison of clinical examination data, nerve conduction studies, electronystagmographic recording, and magnetic resonance imaging of a family with LOFA with a group of patients with FRDA. Genetic linkage analysis was performed in the family with LOFA. SETTING--Referral center. PATIENTS--Thirteen patients satisfied classic diagnostic criteria of FRDA, and three patients from one family satisfied all diagnostic criteria of FRDA but with disease onset after 25 years. RESULTS--Results of nerve conduction studies, electronystagmographic recording, and magnetic resonance imaging in patients with LOFA closely corresponded to observations made in patients with FRDA. In addition, genetic linkage analysis using markers tightly linked to the FRDA locus on chromosome 9 showed that all affected members of the LOFA family, but not their unaffected siblings, had inherited identical paternal and maternal genotypes. CONCLUSIONS--Data suggest that LOFA may also result from mutation within the FRDA locus.
目的——明确迟发性弗里德赖希共济失调（LOFA）的疾病分类，即弗里德赖希共济失调（FRDA）发病较晚的患者，通常在25岁之后发病。设计——对一个LOFA家系的临床检查数据、神经传导研究、眼震电图记录和磁共振成像结果与一组FRDA患者进行比较。对LOFA家系进行了基因连锁分析。地点——转诊中心。患者——13例患者符合FRDA的经典诊断标准，来自一个家系的3例患者符合FRDA的所有诊断标准，但发病年龄在25岁之后。结果——LOFA患者的神经传导研究、眼震电图记录和磁共振成像结果与FRDA患者的观察结果密切相符。此外，使用与9号染色体上FRDA位点紧密连锁的标记进行的基因连锁分析表明，LOFA家系的所有患病成员，而非未患病的同胞，都继承了相同的父系和母系基因型。结论——数据表明，LOFA也可能由FRDA位点内的突变引起。
