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ND11267 DNA from LCL

Description:

FRONTOTEMPORAL DEGENERATION

Affected:

Yes

Sex:

Female

Age:

53 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links
  • Images

Overview

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Repository NINDS Repository
Subcollection Frontotemporal Degeneration
Quantity 20 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Subject Type family with at least 3 members, including 1 proband, not a trio
Family Type NUCLEAR FAMILIES - ONE AFFECTED
Ethnicity Not Hispanic/Latino
Country of Origin USA
Family Member 1
Family History N
Relation to Proband proband
Species Homo sapiens
Common Name Human

Characterizations

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Gene MAPT
Chromosomal Location 17q21.1
Allelic Variant 1 157140.0008; DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM
Identified Mutation VAL337MET; Poorkaj et al. (1998) identified 9 DNA sequence variants in 2 families with what they referred to as FTDP17 (600274); 8 of these were also identified in controls and were thus considered polymorphisms. The ninth variant, VAL279MET, was found in 1 FTDP17 family, but not in the other. (This mutation is designated val337 to met in the numbering used by Hutton et al. (1998); see 157140.0001.) The change was considered positive since it occurred in a highly conserved residue and a normal valine is found at this position in all 3 tau interrepeat sequences and in other MAPT homologs. Furthermore, the mutation cosegregated with the disease in the family and was not found in normal controls. At the time that the paper of Poorkaj et al. (1998) was submitted, the longest amino acid form of tau in the database did not include all of the alternatively spliced exons (Poorkaj, 1998).

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 53 YR
Sex Female
Age of Onset(If not a control) 38 YR
Age at Diagnosis(If not a control) 46 YR
Hispanic or Latino/Not Hispanic or Latino Not Hispanic/Latino
Racial Category White
Country USA
Diagnosed By No Data
 
Data Elements
Clinical Element Type: Parkinsonism
  (Baseline)
Longitudinal Data
Is this data Longitudinal (Follow-Up) Data? yes  no  
Family History
Family history of parkinsonism present  absent   unknown (subject adopted) 
Notes: FAMILY HISTORY OF DEMENTIA- MATERNAL GRANDFATHER AND POSSIBLY SISTER
Specific diagnosis
Parkinsonism clinical diagnosis Parkinson's disease
Progressive Supranuclear Palsy
Diffuse Lewy Body Disease
Multiple System Atrophy
Others
Unaffected primary blood relative of proband

Notes: PROGRESSIVE FRONTO-TEMPORAL DEMENTIA
Genetic Data of Subject
Mutation/s in subject's DNA (if present, describe) present   absent  unknown 
Notes: MAPT:V337M
Signs suggestive of PD diagnosis
Asymmetric onset present  absent  
Bradykinesis present  absent  
Activation tremor present  absent  
Resting Tremor present  absent  
Postural Instability present  absent  
Rigidity present  absent  
Gait difficulties present  absent  
Response to Anti-Parkinsonism Therapy tried and responsive  inadequate dose  not tried/not given   tested and unresponsive 
Signs suggestive of another diagnosis
history of strokes or stepwise deterioration present  absent  
history of head injury with loss of consciousness present  absent  
history of encephalitis present  absent  
Oculogyric crisis present  absent  
neuroleptic treatment at time of symptom onset present  absent  
sustained remission present  absent  
gaze palsy present  absent  
Cerebellar signs (other than activation tremor) present  absent  
Fluctuations present  absent  
hallucinations present  absent  
dysautonomia present  absent  
Memory loss present  absent  
axial rigidity present  absent  
Other present   absent 
Notes: MIGRAINES IN HER TEENS AND 20S
Smoking History
smoking history never   former smoker  current smoker 
years smoking  No Data
Optional data
Mini-mental status score  No Data
Hoehn and Yahr  No Data
UPDRS total motor score  No Data
Handedness Right   Left  Ambidextrous 

External Links

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NCBI GTR 600274 FRONTOTEMPORAL DEMENTIA; FTD
OMIM 600274 FRONTOTEMPORAL DEMENTIA; FTD
Omim Description DISINHIBITION-DEMENTIA-PARKINSONISM-AMYOTROPHY COMPLEX; DDPAC
  WILHELMSEN-LYNCH DISEASE; WLD

Images

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View pedigree 

Culture Protocols

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Split Ratio (Frequency) 1:3 (4 Days)
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
Commercial and Non-U.S.:
$0.00USD
U.S. Academic or
Non-profit:
$0.00USD
NINDS Repository Submitter (past or current) and/or Current NINDS Grantee
$0.00USD
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How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
Related Products
Same Subject
  • ND11267 - B-Lymphocyte
Same Family
  • NINDS3314

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