scholarly journals A case of Creutzfeldt-Jakob disease with E200K mutation presenting with hearing loss and central hypoventilation

2018 ◽  
Vol 58 (11) ◽  
pp. 673-676 ◽  
Author(s):  
Shinji Miyagawa ◽  
Taiji Mukai ◽  
Hiroshi Yaguchi
Keyword(s):  
Hearing Loss ◽  
E200k Mutation ◽  
Jakob Disease ◽  
Central Hypoventilation

scholarly journals The insomnia phenotype in genetic Creutzfeldt–Jakob disease based on the E200K mutation

Prion ◽  
2019 ◽  
Vol 13 (1) ◽  
pp. 77-82
Author(s):  
Eva Feketeova ◽  
Dominika Jarcuskova ◽  
Alzbeta Janakova ◽  
Marianna Vitkova ◽  
Jozef Dragasek ◽  
...  
Keyword(s):  
E200k Mutation ◽  
Jakob Disease

scholarly journals A Case of Athabaskan Brainstem Dysgenesis Syndrome and RSV Respiratory Failure

2020 ◽  
Vol 21 (5) ◽  
pp. 124-126
Author(s):  
Tanner Ellsworth ◽  
◽  
Nahid Hiermandi ◽  
Diana Hu ◽  
Lisa Grimaldi
Keyword(s):  
Hearing Loss ◽  
Critical Care ◽  
Care Setting ◽  
Sensorineural Deafness ◽  
Central Hypoventilation ◽  
Horizontal Gaze ◽  
Key Features ◽  
Syncytial Virus ◽  
New Diagnosis ◽  
Gaze Palsy

Athabaskan Brainstem Dysgenesis Syndrome (ABDS) is a nonlethal, homozygous HOXA1 mutation typically marked by central hypoventilation, sensorineural deafness, horizontal gaze palsy, and developmental delay. In this report, we present a case of a 27-month-old Navajo female with a new diagnosis of ABDS after multiple failed attempts at extubation following anesthesia in the setting of respiratory syncytial virus (RSV) bronchiolitis. Her case is significant because she lacks sensorineural hearing loss, a defining feature of previously documented cases thereby underscoring the challenges of diagnosing this disease. This case expands the ever-growing spectrum of homozygous HOXA1 mutations and demonstrates unique junctions for diagnosis of ABDS in the critical care setting in patients lacking key features of the disease.

Bilateral Hearing Loss Heralding Sporadic Creutzfeldt-Jakob Disease

2014 ◽  
Vol 35 (8) ◽  
pp. 1327-1329 ◽  
Author(s):  
Richard Salazar ◽  
Mirela Cerghet ◽  
Virginia Ramachandran
Keyword(s):  
Hearing Loss ◽  
Bilateral Hearing Loss ◽  
Jakob Disease

Genetic Creutzfeldt-Jakob disease associated with the E200K mutation: characterization of a complex proteinopathy

2010 ◽  
Vol 121 (1) ◽  
pp. 39-57 ◽  
Author(s):  
Gabor G. Kovacs ◽  
Jérémie Seguin ◽  
Isabelle Quadrio ◽  
Romana Höftberger ◽  
István Kapás ◽  
...  
Keyword(s):  
E200k Mutation ◽  
Jakob Disease

3.057 MOVEMENT DISORDERS ARE PREVALENT IN PATIENTS WITH FAMILIAL CREUTZFELDT-JAKOB DISEASE (F-CJD) CARRYING THE E200K MUTATION

2012 ◽  
Vol 18 ◽  
pp. S183
Author(s):  
O. Cohen ◽  
I. Prohovnik ◽  
A.D. Korczyn ◽  
R. Inzelberg ◽  
Z. Nitsan ◽  
...  
Keyword(s):  
Movement Disorders ◽  
E200k Mutation ◽  
Jakob Disease

scholarly journals Complete Penetrance of Creutzfeldt-Jakob Disease in Libyan Jews Carrying the E200K Mutation in the Prion Protein Gene

1995 ◽  
Vol 1 (6) ◽  
pp. 607-613 ◽  
Author(s):  
Serena Spudich ◽  
James A. Mastrianni ◽  
Margaret Wrensch ◽  
Ruth Gabizon ◽  
Zeev Meiner ◽  
...  
Keyword(s):  
Prion Protein ◽  
Protein Gene ◽  
Prion Protein Gene ◽  
Complete Penetrance ◽  
E200k Mutation ◽  
Jakob Disease

Polymorphism at codon 129 ofPRNP affects the phenotypic expression of Creutzfeldt-Jakob disease linked to E200K mutation

2000 ◽  
Vol 48 (2) ◽  
pp. 269-270 ◽  
Author(s):  
Gianfranco Puoti ◽  
Giacomina Rossi ◽  
Giorgio Giaccone ◽  
Tazeen Awan ◽  
Patricia M.-J. Lievens ◽  
...  
Keyword(s):  
Phenotypic Expression ◽  
E200k Mutation ◽  
Jakob Disease ◽  
Codon 129

scholarly journals Familial Creutzfeldt-Jakob disease with E200K mutation presenting with neurosensorial hypoacusis

2007 ◽  
Vol 78 (1) ◽  
pp. 103-104 ◽  
Author(s):  
R Rene ◽  
J Campdelacreu ◽  
I Ferrer ◽  
A Escrig ◽  
M Povedano ◽  
...  
Keyword(s):  
E200k Mutation ◽  
Jakob Disease

scholarly journals Familial Creutzfeldt-Jakob disease with E200K mutation presenting with neurosensorial hypoacusis

2009 ◽  
Vol 2009 (jul07 1) ◽  
pp. bcr0620092006-bcr0620092006 ◽  
Author(s):  
R Rene ◽  
J Campdelacreu ◽  
I Ferrer ◽  
A Escrig ◽  
M Povedano ◽  
...  
Keyword(s):  
E200k Mutation ◽  
Jakob Disease
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