Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress 2023 EHA Congress 2023 ASCO Annual Meeting
Clinical Collections
Advances in Alzheimer’s

At a glance: The ONWARDS insulin icodec trials

A round-up of the ONWARDS phase 3 clinical trials evaluating the novel weekly insulin icodec in people with diabetes.
ADVANCED SEARCH
Log in
Top
Neurological Sciences
Published in: Neurological Sciences 7/2020

01-07-2020 | Autopsy | Letter to the Editor

Diagnosis of severe cognitive disorder: the family history as a key issue

Authors: Céline Derollez, MD, Stéphane Haik, Florence Pasquier, MD PhD, Bertrand De Toffol, MD PhD, Stéphanie Bombois, MD

Published in: Neurological Sciences | Issue 7/2020

Login to get access

Excerpt

Familial Creutzfeldt-Jakob disease (fCJD) is a genetic prion disease and a rare condition presenting with varied clinical features making its diagnosis challenging due to overlaps with other rapid progressive dementias (RPD). Paraclinical tests remained essential to avoid incorrect diagnosis. Nevertheless, family history may be the key to a genetic diagnosis process. We reported the case of a patient investigated in the Department of Neurology at the University Hospital of Lille, France. …
Literature
1.
Schmitz M, Dittmar K, Llorens F, Gelpi E, Ferrer I, Schulz-Schaeffer WJ, Zerr I (2017) Hereditary human prion diseases: an update. Mol Neurobiol 54:4138–4149CrossRef
2.
Geschwind MD, Murray K. Differential diagnosis with other rapid progressive dementias in human prion diseases. In: Handbook of Clinical Neurology. Elsevier; 2018. p. 371–397
3.
Minikel EV, Vallabh SM, Lek M, Estrada K, Samocha KE, Sathirapongsasuti JF, et al. Quantifying prion disease penetrance using large population control cohorts. Science Translational Medicine. 20 janv 2016;8(322):322ra9-322ra9
5.
WHO | Global surveillance, diagnosis and therapy of human transmissible spongiform encephalopathies: report of a WHO consultation. Geneva, Switzerland, 9–11 February 1998. WHO n.d.
6.
Gandini A, Bolognesi ML. Chapter twenty - Therapeutic approaches to prion diseases. In: Legname G, Vanni S, editors. Progress in Molecular Biology and Translational Science, vol. 150, Academic Press; 2017, p. 433–53
Metadata
Title
Diagnosis of severe cognitive disorder: the family history as a key issue
Authors
Céline Derollez, MD
Stéphane Haik
Florence Pasquier, MD PhD
Bertrand De Toffol, MD PhD
Stéphanie Bombois, MD
Publication date
01-07-2020
Publisher
Springer International Publishing
Keyword
Autopsy
Published in
Neurological Sciences / Issue 7/2020
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI
https://doi.org/10.1007/s10072-019-04226-2

Other articles of this Issue 7/2020

Neurological Sciences 7/2020 Go to the issue

Original Article

The assessment of severe lexical disorders in Italian individuals with aphasia

Correction

Correction to: The assessment of severe lexical disorders in Italian individuals with aphasia

Original Article

The differential effect of normal and pathological aging on egocentric and allocentric spatial memory in navigational and reaching space

Review Article

The effectiveness of various cytotherapeutic strategies for the treatment of ischemic stroke: a Bayesian network meta-analysis of randomized controlled trials

Brief Communication

Altered sensory-motor plasticity in amyotrophic lateral sclerosis and complex regional pain type I syndrome: a shared mechanism?

Original Article

Elevated cerebrospinal fluid homocysteine is associated with blood-brain barrier disruption in amyotrophic lateral sclerosis patients