Abstract
Creutzfeldt-Jakob disease (CJD) is typically characterized by rapidly progressive dementia and myoclonus, and it is caused by a conformational change of the prion protein. The heritable forms are associated with mutation in the gene encoding the prion protein (PRNP). We report a 63-year-old Italian woman harboring the E200K PRNP mutation. Electroencephalogram, cerebrospinal fluid analysis, PRNP gene sequencing, histopathologic examination, immunohistochemical studies, and Western blotting analysis confirmed the diagnosis of CJD. Pyramidal involvement was the first sign and the prominent clinical feature. Later on, she developed also myoclonus, ataxia, spastic tetraplegia, and at last dementia with akinetic mutism. Usually, signs of degeneration of the pyramidal tracts occur in a small number of patients as the disease advances. Our report supports the variability of the clinical expression of the E200K genetic CJD. Further studies are needed to understand the molecular basis underlying the phenotypic variability among patients carrying this mutation.
| Original language | English |
|---|---|
| Pages (from-to) | 417-420 |
| Number of pages | 4 |
| Journal | Neurological Sciences |
| Volume | 30 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - 2009 |
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Keywords
- CJD
- Codon 200
- Prions
- PRNP
- PrP
- Spastic tetraparesis
ASJC Scopus subject areas
- Clinical Neurology
- Psychiatry and Mental health
- Dermatology
Cite this
Creutzfeldt-Jakob disease with E200K PRNP mutation : A case report and revision of the literature. / Mancuso, Michelangelo; Siciliano, Gabriele; Capellari, Sabina; Orsucci, Daniele; Moretti, Policarpo; Fede, Giuseppe Di; Suardi, Silvia; Strammiello, Rosaria; Parchi, Piero; Tagliavini, Fabrizio; Murri, Luigi.
In: Neurological Sciences, Vol. 30, No. 5, 2009, p. 417-420.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Creutzfeldt-Jakob disease with E200K PRNP mutation
T2 - A case report and revision of the literature
AU - Mancuso, Michelangelo
AU - Siciliano, Gabriele
AU - Capellari, Sabina
AU - Orsucci, Daniele
AU - Moretti, Policarpo
AU - Fede, Giuseppe Di
AU - Suardi, Silvia
AU - Strammiello, Rosaria
AU - Parchi, Piero
AU - Tagliavini, Fabrizio
AU - Murri, Luigi
PY - 2009
Y1 - 2009
N2 - Creutzfeldt-Jakob disease (CJD) is typically characterized by rapidly progressive dementia and myoclonus, and it is caused by a conformational change of the prion protein. The heritable forms are associated with mutation in the gene encoding the prion protein (PRNP). We report a 63-year-old Italian woman harboring the E200K PRNP mutation. Electroencephalogram, cerebrospinal fluid analysis, PRNP gene sequencing, histopathologic examination, immunohistochemical studies, and Western blotting analysis confirmed the diagnosis of CJD. Pyramidal involvement was the first sign and the prominent clinical feature. Later on, she developed also myoclonus, ataxia, spastic tetraplegia, and at last dementia with akinetic mutism. Usually, signs of degeneration of the pyramidal tracts occur in a small number of patients as the disease advances. Our report supports the variability of the clinical expression of the E200K genetic CJD. Further studies are needed to understand the molecular basis underlying the phenotypic variability among patients carrying this mutation.
AB - Creutzfeldt-Jakob disease (CJD) is typically characterized by rapidly progressive dementia and myoclonus, and it is caused by a conformational change of the prion protein. The heritable forms are associated with mutation in the gene encoding the prion protein (PRNP). We report a 63-year-old Italian woman harboring the E200K PRNP mutation. Electroencephalogram, cerebrospinal fluid analysis, PRNP gene sequencing, histopathologic examination, immunohistochemical studies, and Western blotting analysis confirmed the diagnosis of CJD. Pyramidal involvement was the first sign and the prominent clinical feature. Later on, she developed also myoclonus, ataxia, spastic tetraplegia, and at last dementia with akinetic mutism. Usually, signs of degeneration of the pyramidal tracts occur in a small number of patients as the disease advances. Our report supports the variability of the clinical expression of the E200K genetic CJD. Further studies are needed to understand the molecular basis underlying the phenotypic variability among patients carrying this mutation.
KW - CJD
KW - Codon 200
KW - Prions
KW - PRNP
KW - PrP
KW - Spastic tetraparesis
UR - http://www.scopus.com/inward/record.url?scp=70349652087&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=70349652087&partnerID=8YFLogxK
U2 - 10.1007/s10072-009-0118-7
DO - 10.1007/s10072-009-0118-7
M3 - Article
C2 - 19597763
AN - SCOPUS:70349652087
VL - 30
SP - 417
EP - 420
JO - Neurological Sciences
JF - Neurological Sciences
SN - 1590-1874
IS - 5
ER -