Analysis Of The Clinical Characteristics Of Four Familial Prion Disease Patients

Objectives To study the clinical characteristics of four familial prion disease patients diagnosed in Henan provincial people’s hospital diagnosis and HeNan Disease Control And Prevention Center between2011and2013. Analysis of clinical characteristics included disease onset forms, clinical manifestations, electroencephalogram, imaging findings, cerebrospinal fluid14-3-3protein, and PRNP gene. By doing these, we hope to improve the understanding of familial prion disease and clinical diagnostic accuracy.Materials and methods We retrospectively reviewed and analyzed4cases considering familial prion disease that has been diagnosed in Henan provincial people’s hospital diagnosis and HeNan Disease Control And Prevention Center between2011and2013.Result The four cases were all female patients. The average age at disease onset was60.5years old ranging from44to72years old. The four cases presented with subacute disease onset with no important triggering factors. Two patients presented the initial symptoms as rapidly progressive cognitive impairment. One presented sleep disorders as the initial symptoms. The other one showed myoclonus at onset. The average survival time was ten months.One patient had a positive family history. On genetic screening, one patient was found to harbor the V1801point mutation of PRNP gene, the remaining three patients to harbor the D178N point mutation. Patient with V1801mutation presented the classical CJD phenotype. Two of the three D178N patients presented the CJD phenotype, the other one showed the FFI phenotype. MRI shows basal ganglion and/or cerebral cortex hyperintense abnormalities on DWI in two cases. Cerebrospinal fluid14-3-3protein was positive in only one case.Conclusion1. The four cases in the present study received a definite diagnosis of familial prion disease by genetic screening. One patient was found to harbor the V1801point mutation of PRNP gene, the remaining three with D178N point mutation.2. The four cases presented various clinical symptoms and signs with distinct corresponding brain lesions. Two patients presented the initial symptoms as rapidly progressive cognitive impairment. One presented sleep disorders as the initial symptoms. The other one showed myoclonus at onset. The average survival time was ten months.3. Basal ganglion and/or cerebral cortex hyperintense abnormalities on DWI and positive CSF14-3-3were important in the diagnosis of prion disease.