PMID- 10791093
OWN - NLM
STAT- MEDLINE
DCOM- 20000605
LR  - 20061115
IS  - 0009-918X (Print)
IS  - 0009-918X (Linking)
VI  - 39
IP  - 12
DP  - 1999 Dec
TI  - [Familial parkinsonism and dementia with ballooned neurons, argyrophilic neuronal 
      inclusions, atypical neurofibrillary tangles, tau-negative astrocytic fibrillary 
      tangles, and Lewy bodies].
PG  - 1262-3
AB  - We reported a new type of familial Parkinson's disease (familial PD) previously. 
      After that, we examined this family by both the immunohistochemical staining 
      using anti-alpha-synuclein antibody and the analysis of alpha-synuclein gene. We 
      reported these results, and briefly reviewed both familial PD and "familial 
      frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)". 
      Immunohistochemical staining with anti-alpha-synuclein antibody revealed that the 
      argyrophilic neuronal inclusions and atypical barely tau-positive neurofibrillary 
      tangles were strongly immunoreactive, whereas the ballooned neurons and 
      astrocytic fibrillary tangles were unreactive. DNA analysis of the leukocytes 
      obtained from one live patient of our family did not show any mutations in the 
      entire exons of alpha-synuclein gene. Our results indicated that our family had 
      familial diffuse Lewy body disease with atypical features and without 
      alpha-synuclein gene abnormalities. Features of familial PD included 1) autosomal 
      dominant inheritance, 2) not uncommon atypical clinical features, 3) variable 
      symptomatology and dopa-responsiveness, and 4) low incidence of alpha-synuclein 
      gene abnormalities. Our familial PD showed similar features, and 
      neuropathological findings of our patients also resembled FTPD-17 in the presence 
      of frequent ballooned neurons and neurofibrillary tangles in the cerebral cortex, 
      but were different in the presence of Lewy bodies and paucity of tau pathology.
FAU - Mizutani, T
AU  - Mizutani T
AD  - Department of Neurology, Nihon University School of Medicine.
LA  - jpn
PT  - English Abstract
PT  - Journal Article
PL  - Japan
TA  - Rinsho Shinkeigaku
JT  - Rinsho shinkeigaku = Clinical neurology
JID - 0417466
SB  - IM
MH  - Humans
MH  - Inclusion Bodies/*pathology
MH  - Lewy Bodies/*pathology
MH  - Neurofibrillary Tangles/*pathology
MH  - Neurons/*pathology
MH  - Parkinson Disease/*genetics/*pathology
EDAT- 2000/05/03 09:00
MHDA- 2000/06/10 09:00
CRDT- 2000/05/03 09:00
PHST- 2000/05/03 09:00 [pubmed]
PHST- 2000/06/10 09:00 [medline]
PHST- 2000/05/03 09:00 [entrez]
PST - ppublish
SO  - Rinsho Shinkeigaku. 1999 Dec;39(12):1262-3.