Alzheimer Disease & Frontotemporal Dementia Mutation Database

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APP Val717Leu;Indiana-2 Families

Name

Phenotype

Alzheimer Disease

Inheritance

Autosomal Dominant

Onset Age

Mean: 37.5 years; Range: 35 - 39 years; 5 patients

Age at Death

Mean: 49.5 years; Range: 49 - 50 years

Disease Duration

Mean: 10.0 years;

Ethnic origin

Mutation

APP Val717Leu;Indiana-2 (Segregation Proven)

Citations

Murrell JR, Archives of Neurology 57: 885-887, 2000

Added: July 19, 2000

ID: 182

Name

Phenotype

Alzheimer Disease (Autopsy Proven)

Inheritance

Familial

Onset Age

Mean: 36.5 years; Range: 35 - 38 years; 2 patients

Age at Death

Mean: 47.5 years; Range: 44 - 51 years

Disease Duration

Mean: 11.0 years; Range: 9 - 13 years

Ethnic origin

Mutation

APP Val717Leu;Indiana-2

Citations

Ghetti B, Alzheimer's & Dementia 4 Supp 2: T585, 2008

Added: September 23, 2008

ID: 874

Name

Phenotype

Alzheimer Disease

Inheritance

Unknown

Onset Age

Mean: 59.0 years; Range: 59 - 59 years; 1 patient

Age at Death

Disease Duration

Ethnic origin

Caucasian

Mutation

APP Val717Leu;Indiana-2

Citations

Sassi C, Neurobiology of Aging 35: 2422.e13-6, 2014

Added: September 28, 2015

ID: 1605

Name

171

Phenotype

Alzheimer Disease

Inheritance

Autosomal Dominant

Onset Age

Mean: 50.0 years; Range: 48 - 57 years; 6 patients

Age at Death

Mean: 61.4 years; Range: 57 - 68 years

Disease Duration

Mean: 12.0 years; Range: 9 - 18 years

Ethnic origin

Caucasian (UK)

Mutation

APP Val717Leu;Indiana-2 (Segregation Proven)

Citations

Godbolt AK, Neurology 66: 611-612, 2006

Added: January 26, 2007

ID: 658

Name

p.43

Phenotype

Alzheimer Disease

Inheritance

Familial

Onset Age

Mean: 50.0 years; Range: 50 - 50 years; 3 patients

Age at Death

Disease Duration

Ethnic origin

Caucasian (Germany)

Mutation

APP Val717Leu;Indiana-2

Citations

Finckh U, Neurogenetics 6: 85-89, 2005

Added: June 1, 2005

ID: 483

Name

p.83

Phenotype

Alzheimer Disease

Inheritance

Familial

Onset Age

Mean: 44.5 years; Range: 43 - 46 years; 2 patients

Age at Death

Disease Duration

Ethnic origin

Caucasian (Germany)

Mutation

APP Val717Leu;Indiana-2 (Segregation Proven)

Citations

Finckh U, Neurogenetics 6: 85-89, 2005

Added: June 1, 2005

ID: 484

Name

VII

Phenotype

Alzheimer Disease (Autopsy Proven)

Inheritance

Autosomal Dominant

Onset Age

Mean: 49.8 years; Range: 45 - 58 years; 4 patients

Age at Death

Disease Duration

Ethnic origin

Mutation

APP Val717Leu;Indiana-2 (Segregation Proven)

Citations

Hooli BV, Neurology 78: 1250-1257, 2012

Added: July 13, 2015

ID: 1558


Selection:
Mutation ID In ('90')



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