ABSTRACT
Gerstmann-Sträussler-Scheinker syndrome (GSS) is a rare degenerative disorder of the central nervous system that belongs to the family of human spongiform encephalopathies, or prion diseases. GSS is almost always inherited and mostly carried in an autosomal dominant pattern. Nevertheless, GSS is genetically and phenotypically heterogeneous; among the different prion diseases GSS has the longest clinical course thereby has the potential to mimic the clinical course of different neurological disorders. Here, we report of a patient with a progressive ataxic syndrome, with MRI and CSF findings suggestive of a demyelinating-inflammatory process as multiple sclerosis and the cues that prompted to a final diagnosis of GSS.
Subject(s)
Gerstmann-Straussler-Scheinker Disease/diagnosis , Gerstmann-Straussler-Scheinker Disease/genetics , Multiple Sclerosis/diagnosis , Multiple Sclerosis/genetics , Adult , Diagnosis, Differential , Female , HumansABSTRACT
The goal of this study was to determine the needs of ALS family caregivers. Utilizing a qualitative and quantitative mixed methodology known as Concept Mapping (CM), individual interviews with family caregivers of ALS patients (n =19) identified 109 needs. The needs were sorted and rated by 12 of the family caregivers, then analyzed using multidimensional scaling and cluster analysis. In addition, the caregivers completed the SF-8 QoL measure. The analysis resulted in a four-cluster map, representing the trajectory of the ALS family caregivers' needs: Stage 1: Early Coping and Adjustment; Stage 2: Maintenance; Stage 3: Transition to End Stage; and Stage 4: Coping with Change and Loss. The SF-8 results indicated that caregivers who resided with their ALS family member have poorer mental and physical health than family caregivers who did not have primary residence with the ALS patient. In conclusion, a model of needs for ALS family caregivers was established. Future studies addressing these needs may improve QoL of ALS family caregivers as well as ALS patients.
