| Objective:1. To generalize the clinical features of three SCA3patients who were initiallymisdiagnosed and analyze cause for better understanding the clinicalheterogeneity of SCA3and improving early diagnostic level.2. To report and analysis patients with spinocerebellar ataxias who have dysfunctionof hearing.3. To summarize the clinical features of seven patients with HD ex-misdiagnosed asSCA, acquire further knowing of the clinical variants of HD and improve itsdiagnostic level.Methods:1. Employing the polymerase chain reaction combined with agarose gelelectrophoresis or polyacrylamide gel electrophoresis to screen patients withspinocerebellar ataxia and Huntington’s disease.2. To detect the numbers of (CAG)n repeats by using the direct sequencing method.Results:1. Through genetic testing, these3patients were diagnosed as SCA3who wereinitially misdiagnosed as dopa-responsive dystonia, Huntington’s disease andhereditary spastic paraplegia respectively.2. Two patients with impairment of hearing were respectively diagnosed asspinocerebellar ataxia2and3.3. Seven patients ex-diagnosed as SCA were made definite diagnoses of HD throughgenetic testing.Conclusions: 1. SCA3is easily misdiagnosed in the early stage because of its clinicalheterogeneity and some variants, clinicians should pay attention to thephenomenon in order to make timely diagnosis.2. The doctors should carefully examine the auditory system of patients with SCA,and expand the understanding of the impairment regions of central nervoussystem.3. The clinical manifestations of patients with HD are complicated, and even sharesome common features with SCA at the preliminary stage of disease. When therelevant results of gene-screening in SCA are passive in patient with ataxia, weshould take further mutation analysis of IT15gene in order to make definitediagnosis for patients. |
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