PMID- 11400017
OWN - NLM
STAT- MEDLINE
DCOM- 20010719
LR  - 20190815
IS  - 0004-282X (Print)
IS  - 0004-282X (Linking)
VI  - 59
IP  - 2-A
DP  - 2001 Jun
TI  - Prion disease resembling frontotemporal dementia and parkinsonism linked to 
      chromosome 17.
PG  - 161-4
AB  - OBJECTIVE: To compare the clinical features of a familial prion disease with 
      those of frontotemporal dementia and parkinsonism linked to chromosome 17 
      (FTDP-17). BACKGROUND: Prion diseases are not usually considered in the 
      differential diagnosis of FTDP-17, since familial Creutzfeldt-Jakob disease 
      (CJD), the most common inherited prion disease, often manifests as a rapidly 
      progressive dementia. Conversely, FTDP-17 usually has an insidious onset in the 
      fifth decade, with abnormal behavior and parkinsonian features. METHOD: We 
      present the clinical features of 12 patients from a family with CJD associated 
      with a point mutation at codon 183 of the prion protein gene. RESULTS: The mean 
      age at onset was 44.0 +/- 3.7; the duration of the symptoms until death ranged 
      from two to nine years. Behavioral disturbances were the predominant presenting 
      symptoms. Nine patients were first seen by psychiatrists. Eight patients 
      manifested parkinsonian signs. CONCLUSION: These clinical features bear a 
      considerable resemblance to those described in FTDP-17.
FAU - Nitrini, R
AU  - Nitrini R
AD  - Department of Neurology, Faculty of Medicine, University of Sao Paulo, Sao Paulo, 
      Brazil. rnitrini@uol.com.br
FAU - Teixeira da Silva, L S
AU  - Teixeira da Silva LS
FAU - Rosemberg, S
AU  - Rosemberg S
FAU - Caramelli, P
AU  - Caramelli P
FAU - Carrilho, P E
AU  - Carrilho PE
FAU - Iughetti, P
AU  - Iughetti P
FAU - Passos-Bueno, M R
AU  - Passos-Bueno MR
FAU - Zatz, M
AU  - Zatz M
FAU - Albrecht, S
AU  - Albrecht S
FAU - LeBlanc, A
AU  - LeBlanc A
LA  - eng
PT  - Journal Article
PL  - Germany
TA  - Arq Neuropsiquiatr
JT  - Arquivos de neuro-psiquiatria
JID - 0125444
SB  - IM
MH  - Adult
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Creutzfeldt-Jakob Syndrome/diagnosis/*genetics
MH  - Dementia/diagnosis/genetics
MH  - Diagnosis, Differential
MH  - Female
MH  - Genetic Linkage
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Parkinsonian Disorders/diagnosis/*genetics
MH  - Pedigree
EDAT- 2001/06/16 10:00
MHDA- 2001/07/20 10:01
CRDT- 2001/06/16 10:00
PHST- 2001/06/16 10:00 [pubmed]
PHST- 2001/07/20 10:01 [medline]
PHST- 2001/06/16 10:00 [entrez]
AID - S0004-282X2001000200001 [pii]
AID - 10.1590/s0004-282x2001000200001 [doi]
PST - ppublish
SO  - Arq Neuropsiquiatr. 2001 Jun;59(2-A):161-4. doi: 10.1590/s0004-282x2001000200001.