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
Otros factores de diagnóstico
- sintomas sensoriais dolorosos
- distúrbios de movimento
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
Pruebas diagnósticas
Primeras pruebas diagnósticas para solicitar
- ressonância nuclear magnética (RNM) cranioencefálica
- eletroencefalograma (EEG)
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)
Algoritmo de tratamiento
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.
Diferenciales
- Demência de Alzheimer (DA)
- demência com corpos de Lewy
- Demência frontotemporal
Más DiferencialesGuías de práctica clínica
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