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Doença de príon

Última revisión: 25 Mar 2025
Última actualización: 27 Sep 2024

Resumen

Definición

Anamnesis y examen

Principales factores de diagnóstico

  • comprometimento cognitivo
  • ataxia de marcha e/ou de membros
  • mioclonia
  • parkinsonismo
  • sintomas psiquiátricos
  • alterações visuais
  • fim da terceira década de vida ou meados/fim da sétima década de vida
  • insônia, disautonomia
  • história familiar positiva
  • sintomas constitucionais ou inespecíficos
Todos los datos

Otros factores de diagnóstico

  • sintomas sensoriais dolorosos
  • distúrbios de movimento
Todos los datos

Factores de riesgo

  • predisposição genética
  • instrumentos cirúrgicos contaminados por príons
  • transfusão de sangue ou de hemoderivados (variante da doença de Creutzfeldt-Jakob)
  • consumo de carne do Reino Unido de 1980 a 1996
  • consumo de carne bovina dos EUA
  • caça de cervos, uapitis (espécie de veado) e alces em regiões endêmicas dos EUA e do Canadá
  • uso de hormônio do crescimento (GH) humano
Todos los datos

Pruebas diagnósticas

Primeras pruebas diagnósticas para solicitar

  • ressonância nuclear magnética (RNM) cranioencefálica
  • eletroencefalograma (EEG)
Todos los datos

Pruebas diagnósticas que deben considerarse

  • conversão induzida por estremecimento (CIE)
  • biomarcadores do líquido cefalorraquidiano (LCR)
  • teste genético para gene da proteína príon
  • biópsia (cérebro, amígdala)
Todos los datos

Algoritmo de tratamiento

En curso

todos os pacientes

Colaboradores

Autores

Valerie Sim, MD, FRCPC

Associate Professor

Department of Medicine

Division of Neurology

Centre for Prions and Protein Folding Diseases

University of Alberta

Edmonton

Alberta

Canada

Divulgaciones

VS is principal and co-investigator on several research grants through the University of Alberta, to study prion disease and related neurodegenerative diseases. VS has one patent approved for the development of IgE-based prion therapy. VS is currently a site lead for the Ionis PrProfile trial. VS has been invited to give an educational session on prion disease at the American Academy of Neurology meeting in 2024.

Agradecimientos

Dr Valerie Sim would like to gratefully acknowledge Dr Michael D. Geschwind, Dr Amy Kuo, and Dr R. Ronald Finley, the previous contributors to this topic. MDG participates in the speakers' bureau for Pfizer, Forest, and Novartis; is consultant for MedaCorp, Gerson-Lehman Group, and Clinical Advisors Incorporated; and is an author of a number of references cited in this topic. RRF participates in the speakers' bureau for Pfizer, Forest, and Novartis. AK declares that she has no competing interests.

Revisores por pares

Ali Hassoun, MD, FACP, FIDSA, AAHIVS

Infectious Disease Specialist

Alabama Infectious Diseases Center

Huntsville

AL

Divulgaciones

AH declares that he has no competing interests.

Robert A. Larsen, MD

Associate Professor of Medicine

University of Southern California

Keck School of Medicine

Los Angeles

CA

Divulgaciones

RAL declares that he has no competing interests.

William A. Petri, Jr., MD, PhD, FACP

Chief and Professor of Medicine

Division of Infectious Diseases and International Health

University of Virginia Health System

Charlottesville

VA

Divulgaciones

WAP declares that he has no competing interests.

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