NR AMSU
AU Worrall,B.B.; Rowland,L.P.; Chin,S.S.M.; Mastrianni,J.A.
TI Amyotrophy in prion diseases
QU Archives of Neurology 2000 Jan; 57(1): 33-8
PT journal article; review; review, tutorial
AB Amyotrophic lateral sclerosis was once thought to be caused by persistent viral infection, partly because some patients with transmissible Creutzfeldt-Jakob disease showed prominent amyotrophy. However, in the past 15 years there has been little interest in the amyotrophy in prion diseases, and the possible link to amyotrophic lateral sclerosis has been eschewed. We analyzed case reports of prion disease published after 1968 for evidence of amyotrophy. We defined amyotrophy as clinically evident fasciculation buttressed by electromyographic results in some cases. We sought evidence of motor neuron degeneration at autopsy. Prion disease was proved by transmissibility, immunohistochemistry demonstration of protease-resistant prion protein, or finding a mutation in the prion protein gene. Amyotrophy was noted in 27 patients: 13 with sporadic Creutzfeldt-Jakob disease, 2 with familial Creutzfeldt-Jakob disease, and 12 with Gerstmann-Sträussler-Scheinker disease. Of the 27, 23 showed clinical fasciculation and 10 had electromyographic evidence of denervation. The spinal cord was examined in 8 patients: 6 showed loss of motor neurons, 1 showed vacuolation of motor neurons, and 1 reported no abnormalities. Another 23 patients had typical histopathological characteristics but lacked molecular or biochemical proof of prion disease. The total number of patients with amyotrophy and proven prion disease that we identified was 50. This case review supports the belief that amyotrophy is occasionally a prominent feature of Creutzfeldt-Jakob disease and underscores the importance of documenting lower motor neuron function and the crucial role of examining the spinal cord at autopsy in cases of prion disease.
ZR 65
MH Amyotrophic Lateral Sclerosis/genetics/*pathology; Creutzfeldt-Jakob Syndrome/genetics/*pathology; *Family Health; Genetic Predisposition to Disease; Gerstmann-Sträussler-Scheinker Disease/genetics/pathology; Human
AD Bradford B. Worrall (bbw9r@virginia.edu), Lewis P. Rowland, Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA; Steven S.-M. Chin, Department of Pathology (Neuropathology), Columbia University College of Physicians and Surgeons, New York, NY, USA; James A. Mastrianni, Department of Neurology, University of Chicago School of Medicine, Chicago Ill, USA
SP englisch
PO USA