Estudo retrospectivo da doença de Creutzfeldt-Jakob diagnosticada no norte de Portugal entre 1993-2002: características demográficas, clínicas e neuropatológicas

Abstract

INTRODUÇÃO E OBJETIVO: Descrição das características demográficas, clinicas e neuropatológicas de 11 doentes com doença de Creutzfeldt-Jakob (DCJ). MÉTODO: Revisão clínica e neuropatológica de doentes com DCJ diagnosticados entre 1993 e 2002 em hospitais do Norte de Portugal. RESULTADOS: Foram identificados 11 doentes (4 do sexo feminino; idade média de início dos sintomas, 64 anos; média de duração da doença, 8 meses). Todos apresentaram síndrome demencial progressiva associada a mioclonias, sendo a síndrome cerebelar a forma de apresentação inicial em quatro deles. O estudo neuropatológico revelou sempre espongiose e gliose reativa associada a perda neuronal. O estudo imunocitoquímico para proteína priônica (PrP) foi positivo nos oito casos em que foi executado. CONCLUSÃO: O grupo de doentes descritos constitui uma série clinica representativa da heterogeneidade de fenótipos possíveis da DCJ esporádica. O estudo neuropatológico é ainda indispensável para o diagnóstico definitivo da doença.

Implications of Prion Protein Biology

“…Copper signaling Prusiner, 1998;Klamt et al 2001;Brown, 2001;Martins et al, 2002;Wechselberger et al, 2002;Roucou & Leblanc, 2005;Toni et al, 2005;Brown, 2005 Bax pathway Roucou & Leblanc, 2005;Bounhar et al, 2001 Glatzel & Aguzzi, 2001;Prusiner, 1998 Transmissible Mink Encephalopathy Mink Prusiner, 1998;Glatzel & Aguzzi, 2001 Chronic Wasting Disease Deer and Elk Glatzel &Aguzzi, 2001;Prusiner, 1998 Feline spongiform encephalophaty Cats Glatzel &Aguzzi, 2001;Prusiner, 1998 Bovine spongiform encephalopathy (BSE) Cattle Glatzel &Aguzzi, 2001;Prusiner, 1998 Kuru Humans Prusiner, 1998;Glatzel & Aguzzi, 2001 CJD Humans Glatzel et al, 2005;Silva et al, 2003;Prusiner, 1998 Iatrogenic form of CJD Humans Glatzel & Aguzzi, 2001;Glatzel et al, 2005 Creutzfeldt-Jakob disease (nvCJD) Humans Glatzel &Aguzzi, 2001;Glatzel et al, 2005;Silva et al, 2003 Gerstmann-Sträussler-Scheinker Syndrome (GSS) Humans Glatzel et al, 2005;Prusiner, 1998 Fatal Familial Insomnia Humans Glatzel et al, 2005;Prusiner, 1998 cyte proliferation associated with neuronal loss and eventually to amyloid plaques of PrP sc (Silva et al, 2003). The incidence peak is around 55 to 65 years of age, as in Alzheimer and Parkinson diseases which also increase in incidence with age (Glatzel et al, 2005).…”

“…The fact that nvCJD has distinct clinical-pathological features makes diagnosis criteria easier. As opposed to sporadic CJD, nvCJD patients are younger (mean 29 years of age), can show psychiatric symptoms and the mean duration of the disease is 14 months (Silva et al, 2003;Glatzel et al, 2005). Histologically, there is abundant amyloid plaque deposition surrounded by vacuoles (Silva et al, 2003;Glatzel et al, 2005), forming "florid plaques".…”

“…As opposed to sporadic CJD, nvCJD patients are younger (mean 29 years of age), can show psychiatric symptoms and the mean duration of the disease is 14 months (Silva et al, 2003;Glatzel et al, 2005). Histologically, there is abundant amyloid plaque deposition surrounded by vacuoles (Silva et al, 2003;Glatzel et al, 2005), forming "florid plaques". Moreover, spongiform degeneration is less evident and the deposition is more intense (Silva et al, 2003).…”

“…Histologically, there is abundant amyloid plaque deposition surrounded by vacuoles (Silva et al, 2003;Glatzel et al, 2005), forming "florid plaques". Moreover, spongiform degeneration is less evident and the deposition is more intense (Silva et al, 2003).…”

Probable Creutzfeldt-Jakob disease—a case report at Suez Canal University Hospital, Egypt

“…The diagnosis essentially depends on the clinical signs, in electroencephalographic (EEG) findings, and in the detection of the 14-3-3 protein in the spinal fluid [3][4][5]. However, neuropathologic features can make the definitive diagnosis [3].…”