A case of familial Creutzfeldt-Jakob disease presenting with dry cough.
BACKGROUND
Clinical diagnosis of Creutzfeldt-Jakob disease (CJD) is based on the classical triad of rapidly progressive dementia, myoclonus and abnormal EEG. The 200k mutation within the gene encoding PrP, located on the short arm of chromosome 20, accounts for more than 70% of families with CJD worldwide.


METHODS
Herein, we report a patient who developed persistent dry cough and classical signs of CJD, including severe cognitive decline, cerebellar signs, and myoclonic jerks, leading to death a few weeks after disease onset. Mutation screening showed that he had the 200k point mutation in the PRNP gene. His mother had died twenty years earlier with neuropathologically confirmed CJD. She had presented a rapidly progressive ataxia with myoclonus, dementia, visual hallucinations, and the same persistent dry cough.


CONCLUSIONS
The clinical presentation of this familial CJD case with persistent dry cough is quite unusual. Therefore, a neurological etiology should be sought when confronted with an unexplained persistent cough.
Larue
Sandrine
S
Department of Neurological Sciences, CHAUQ - Enfant-Jésus, Laval University, Quebec City, QC, Canada.
Verreault
Steve
S
Gould
Peter
P
Coulthart
Michael B
MB
Bergeron
Catherine
C
Dupré
Nicolas
N
D001921:Brain / Q000473:pathology / Q000503:physiopathology; D002526:Cerebellar Diseases / Q000235:genetics / Q000503:physiopathology; D003072:Cognition Disorders / Q000235:genetics / Q000503:physiopathology; D003371:Cough / Q000209:etiology* / Q000503:physiopathology; D007562:Creutzfeldt-Jakob Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D003704:Dementia / Q000235:genetics / Q000503:physiopathology; D018450:Disease Progression; D017809:Fatal Outcome; D020233:Gait Disorders, Neurologic / Q000235:genetics / Q000503:physiopathology; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006212:Hallucinations / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D007585:Jews / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009207:Myoclonus / Q000235:genetics / Q000503:physiopathology; D011328:Prions / Q000235:genetics
D011328:Prions