Intrafamilial phenotype variation in Friedreich's disease: possible exceptions to diagnostic criteria |
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Authors: | Alessandro Filla Giuseppe De Michele Francesca Cavalcanti Filippo Santorelli Lucio Santoro Giuseppe Campanella |
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Affiliation: | (1) Department of Neurology, Second School of Medicine, University of Naples, Via Pansini, 5, I-80131 Naples, Italy;(2) Department of Clinical Neurophysiology, Second School of Medicine, University of Naples, Via Pansini, 5, I-80131 Naples, Italy |
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Abstract: | Summary Three families are described which include members with typical Friedreich's disease (FD) and others who are ataxic but do not satisfy all the diagnostic criteria for that disease. In family A two patients have an early-onset, rapidly progressive FD, while two others have a late-onset, more benign form. In families B and C one member has typical FD, and another has a similar ataxic syndrome, except for preservation of knee jerks. Laboratory evaluation is consistent with the diagnosis of FD in all cases. FD diagnosis appears justified in secondary cases with late onset or preserved tendon reflexes, provided that the index case fulfils all diagnostic criteria. Whether the diagnosis of FD is tenable in sporadic atypical cases remains to be seen. Echocardiographic and neurophysiological examination may be valuable in classifying such cases. |
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Keywords: | Friedreich's ataxia Inherited ataxias |
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