PMID- 11914409
OWN - NLM
STAT- MEDLINE
DCOM- 20020522
LR  - 20190514
IS  - 0028-3878 (Print)
IS  - 0028-3878 (Linking)
VI  - 58
IP  - 6
DP  - 2002 Mar 26
TI  - Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and 
      epilepsy.
PG  - 922-8
AB  - OBJECTIVE: To perform a clinical and molecular study of a large autosomal 
      dominant family with a complex neurologic syndrome that comprises early-onset 
      dementia, extrapyramidal and cerebellar features, and epilepsy. BACKGROUND: 
      Early-onset forms of dementia often are caused by genetic factors. Mutations of 
      three different genes-amyloid precursor protein (APP), presenilin 1 (PS-1), 
      presenilin 2 (PS-2)-have been found in early-onset autosomal dominant forms of 
      AD, of the human microtubule associated-protein tau gene (MAPT) in frontotemporal 
      dementia and parkinsonism linked to chromosome 17 (FTDP-17), of the BRI gene in 
      familial British dementia, of the PI12 gene in familial encephalopathy with 
      neuroserpin inclusion bodies. Linkage to chromosome 3 has been found in familial 
      nonspecific dementia (FND) and linkage to chromosome 20 has been found in 
      Huntington disease (HD)-like neurodegenerative disease. Dementia may be a feature 
      of other neurodegenerative diseases such as HD, dentatorubro-pallidoluysian 
      atrophy (DRPLA), diseases caused by mutations of the prion protein gene (PRNP), 
      spinocerebellar ataxias (SCA), and familial parkinsonism. METHODS: A southern 
      Italian family with autosomal dominant dementia-plus was observed. The family 
      includes 57 individuals in 5 generations (14 affected, 7 personally observed). 
      The authors performed linkage analysis to APP, PS-1, PS-2, FTDP-17, BRI, PI12, 
      FND, HD-like, SCA4, SCA5, SCA10, SCA11, SCA13, PARK1, PARK2, PARK3 loci; direct 
      mutation analysis of HD, DRPLA, SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA12, and 
      PRNP genes; and sequencing of the PRNP open reading frame. RESULTS: Linkage to 
      the examined loci was excluded. All of the direct mutation analyses were negative 
      excluding mutations in the examined genes. CONCLUSIONS: This family has a 
      peculiar phenotype and molecular analyses excluded genes known to cause 
      hereditary dementias.
FAU - Filla, A
AU  - Filla A
AD  - Department of Neurological Sciences, Federico II University, Naples, Italy. 
      afilla@unina.it
FAU - De Michele, G
AU  - De Michele G
FAU - Cocozza, S
AU  - Cocozza S
FAU - Patrignani, A
AU  - Patrignani A
FAU - Volpe, G
AU  - Volpe G
FAU - Castaldo, I
AU  - Castaldo I
FAU - Ruggiero, G
AU  - Ruggiero G
FAU - Bonavita, V
AU  - Bonavita V
FAU - Masters, C
AU  - Masters C
FAU - Casari, G
AU  - Casari G
FAU - Bruni, A
AU  - Bruni A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Neurology
JT  - Neurology
JID - 0401060
SB  - IM
MH  - Adult
MH  - Aged
MH  - Ataxia/*genetics/pathology
MH  - Basal Ganglia Diseases/*genetics/pathology
MH  - Brain/pathology
MH  - Chromosome Mapping/methods/statistics & numerical data
MH  - Dementia/*genetics/pathology
MH  - Epilepsy/*genetics/pathology
MH  - Female
MH  - *Genes, Dominant
MH  - Humans
MH  - Lod Score
MH  - Male
MH  - Middle Aged
MH  - Pedigree
EDAT- 2002/03/27 10:00
MHDA- 2002/05/25 10:01
CRDT- 2002/03/27 10:00
PHST- 2002/03/27 10:00 [pubmed]
PHST- 2002/05/25 10:01 [medline]
PHST- 2002/03/27 10:00 [entrez]
AID - 10.1212/wnl.58.6.922 [doi]
PST - ppublish
SO  - Neurology. 2002 Mar 26;58(6):922-8. doi: 10.1212/wnl.58.6.922.