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ND11267
DNA
from
LCL
Description:
FRONTOTEMPORAL DEGENERATION
Affected:
Yes
Gender:
Female
Age:
53
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Images
Overview
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
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
Demographic Data
Relation to Proband
proband
Age at Sampling
53 YR
Gender
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
NCBI GTR
600274 FRONTOTEMPORAL DEMENTIA; FTD
OMIM
600274 FRONTOTEMPORAL DEMENTIA; FTD
Omim Description
DISINHIBITION-DEMENTIA-PARKINSONISM-AMYOTROPHY COMPLEX; DDPAC
WILHELMSEN-LYNCH DISEASE; WLD
Images
View
pedigree
Culture Protocols
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.:
$0.00
USD
U.S. Academic or
Non-profit:
$0.00
USD
NINDS Repository Submitter (past or current) and/or Current NINDS Grantee
$0.00
USD
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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