Case report: A Chinese patient with spinocerebellar ataxia finally confirmed as Gerstmann-Sträussler-Scheinker syndrome with P102L mutation.

Gerstmann-Sträussler-Scheinker syndrome (GSS) is a rare genetic prion disease caused by a mutation in the prion protein (PRNP) gene. It is typically characterized by progressive cerebellar ataxia and slowly progressive dementia. We present a case study of the GSS from China in which a 45-year-old male with a progressive gait and balance disorder developed cerebellar ataxia onset but was misdiagnosed as spinocerebellar ataxia (SCA) for 2 years. The patient's clinical, electrophysiological, and radiological data were retrospectively analyzed. Examination revealed ataxia, dysarthria, muscle weakness, areflexia in lower limbs, including a pyramidal sign, whereas cognitive decline was insignificant. His late mother had a similar unsteady gait. An electroencephalogram (EEG) showed normal findings, and 14-3-3 protein was negative. A brain MRI was performed for global brain atrophy and ventricular enlargement. Positron emission tomography-computed tomography (PET-CT) (18F-fluoro-2-deoxy-d-glucose, FDG) images showed mild to moderate decreased glucose metabolism in the left superior parietal lobe and left middle temporal lobe. According to genetic testing, his younger brother also had the P102L variant in the PRNP gene. This single case adds to the clinical and genetic phenotypes of GSS.

[Change of immunosuppressive acidic protein in sera of patients with pulmonary tuberculosis and its clinical significance].

OBJECTIVE: To investigate the change of immunosuppressive acidic protein (IAP) in sera of patients with pulmonary tuberculosis (TB) and its clinical value. METHOD: IAP in sera of 336 patients suffering from pulmonary TB and controls was detected by agar diffusion assay. RESULTS: In pulmonary TB, healthy controls and non-TB respiratory diseases, the level of IAP was (797 +/- 168) mg/L, (367 +/- 71) mg/L and (404 +/- 75) mg/L, respectively. If > 500 mg/L was regarded as positive threshold, the positive rates in the above groups were 96.7%, 9.2% and 9.6%, respectively. IAP positive rates in cases of primary, disseminated, infiltrative, chronic fibro-cavernous pulmonary TB and tuberculous pleuritis were 100, 0%, 100.0%, 96.0%, 98.6% and 96.9%, respectively. IAP was significantly higher in progressive pulmonary TB than in stable pulmonary TB, and was decreased when patients' condition improved after treatment. CONCLUSION: Detection of IAP in sera of patients with pulmonary TB can reflect patients' immunosuppression status and the severity of the disease, and may be useful in assessing treatment effect and evaluating prognosis.