NR ARYG
AU Young,K.; Russell,J.A.; Ma,J.M.; Hedleywhyte,T.E.; Dlouhy,S.R.; Piccardo,P.; Ghetti,B.
TI Gerstmann-Sträussler-Scheinker (GSS) disease with the prion protein gene (PrnP) P102L mutation and lower motor-neuron degeneration
QU Journal of Neuropathology and Experimental Neurology 1997; 56(N5): 596 Nr. 100
PT Meeting Abstract
VT Gerstmann-Sträussler-Scheinker disease is characterized by ataxia and dementia. There is a phenotypic variability of the clinical picture among reported pedigrees as well as among patients of the same kindred. We present a 57-year-old patient from a previously unreported French-Canadian family who had an insidious onset of neurological signs. He presented with difficulty walking and slurred speech. Neurological examination showed mild dysarthria, dysphagia, mild proximal weakness, and mild atrophy of the upper and lower extremities. EMO and nerve conduction studies showed low amplitude action potentials in the leg muscles and fibrillation potentials in intrinsic foot muscles, changes consistent with chronic denervation. Normal sensory potentials were observed. A muscle biopsy showed evidence of mild neurogenic atrophy. The clinical symptomatology progressed; the patient became unable to walk and his cognitive functions deteriorated. He died three years following the onset of symptoms. Analysis of DNA extracted from brain tissue revealed a P102L-M129 haplotype in the PRNP gene. Neuropathologically, there was spongiform degeneration in the neocortex as well as prion protein (PrP) immunopositive deposits in the cerebral and cerebellar gray matter. Examination of the spinal cord at multiple levels revealed degeneration of the lateral pyramidal tracts, loss of lower motor neurons, and presence of argentophilic axonal swellings. Immunohistochemistry with antibody 3F4, which recognizes an epitope correspondings to residue 109-112 of the human PrP, revealed positive immunostaining of the substantia gelatinosa and of the anterior horns. Thus, three main clinico-pathologic phenotypes are associated with the PRNP P102L-M129 haplotype; they are (1) ataxia and dementia, (2) a CJD-like syndrome, (3) a lower motor syndrome accompanied by atypical dementia. Supported by NS29822.
ZR 0
AD
Young,K.1; Russell,J.A.2; Ma,J.M.3; Hedley-Whyte,T.E.3; Dlouhy,S.R.1; Piccardo,P.1; Ghetti,B.1.
1 Indiana University, Indianapolis, IN, USA; 2 Lahey Hitchcock Clinic, Burlington, MA, USA; 3 Massachusetts General Hospital, Boston, MA, USA
SP englisch
OR Prion-Krankheiten 9