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PSEN1 Glu280Gly Families


Name

Phenotype	Alzheimer Disease / Spastic Paresis (Autopsy Proven)
Inheritance	Autosomal Dominant
Onset Age	Mean: 43.0 years; Range: 40 - 48 years; 3 patients
Age at Death	Mean: 49.5 years; Range: 49 - 50 years
Disease Duration	Mean: 9.0 years; Range: 8 - 10 years
Ethnic origin	Caucasian (Ireland)

Mutation	PSEN1 Glu280Gly

Citations	O'Riordan S, Neurology 59: 1108-1110, 2002

Added: January 29, 2003		ID: 331


Name

Phenotype	Alzheimer Disease / Spastic Paraparesis (Autopsy Proven)
Inheritance	Autosomal Dominant
Onset Age	Range: 40 - 48 years; 3 patients
Age at Death
Disease Duration
Ethnic origin	Caucasian (France)

Mutation	PSEN1 Glu280Gly (Segregation Proven)

Citations	Dumanchin C, Human Mutation 27: 1063, 2006

Added: October 3, 2006		ID: 641


Name

Phenotype	Alzheimer Disease / Spastic Paraparesis (Autopsy Proven)
Inheritance	Autosomal Dominant
Onset Age	Mean: 52.0 years; Range: 52 - 52 years; 1 patient
Age at Death	Mean: 67.0 years; Range: 67 - 67 years
Disease Duration	Mean: 15.0 years; Range: 15 - 15 years
Ethnic origin	Caucasian (Canada)

Mutation	PSEN1 Glu280Gly

Citations	Rogaeva E, Neurology 61: 1005-1007, 2003

Added: January 17, 2007		ID: 649


Name	ALZ 150

Phenotype	Alzheimer Disease
Inheritance	Autosomal Dominant
Onset Age	Range: 43 - 47 years; 4 patients
Age at Death
Disease Duration
Ethnic origin

Mutation	PSEN1 Glu280Gly

Citations	Raux G, Journal of Medical Genetics 42: 793-795, 2005

Added: January 11, 2006		ID: 527


Name	F168

Phenotype	Alzheimer Disease (Autopsy Proven)
Inheritance	Autosomal Dominant
Onset Age	Mean: 41.0 years; Range: 39 - 42 years; 5 patients
Age at Death
Disease Duration
Ethnic origin	Caucasian (United Kingdom / Ireland)

Mutation	PSEN1 Glu280Gly (Segregation Proven)

Citations	Clark RF, Nature Genetics 11: 219-222, 1995 Hutton M, Neuroreport 7: 801-805, 1996

Added: April 5, 2000		ID: 37


Name	F183

Phenotype	Alzheimer Disease
Inheritance	Autosomal Dominant
Onset Age	Mean: 43.0 years; Range: 42 - 45 years; 2 patients
Age at Death
Disease Duration
Ethnic origin	Caucasian (United Kingdom / Ireland)

Mutation	PSEN1 Glu280Gly (Segregation Proven)

Citations	Clark RF, Nature Genetics 11: 219-222, 1995 Hutton M, Neuroreport 7: 801-805, 1996

Added: April 5, 2000		ID: 38

Selection:
Mutation ID In ('40')

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