Parkinson Disease Mutation Database

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PARK2 ex4del (breakpoints not mapped) Families

Name

1 (1 documented family member)

Phenotype

juvenile Parkinson's Disease

Inheritance

Unknown

Onset Age

(1 patient)

Age at Death

Ethnic origin

Asian (Korea)

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Jeon BS, Arch Neurol 58: 988-9, 2001

Added: July 2, 2009

ID: 1121

Name

1 (1 documented family member)

Phenotype

Parkinson's Disease

Inheritance

Familial

Onset Age

(2 patients)

Age at Death

Ethnic origin

Asian (Japan)

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Ujike H, Mov Disord 16: 111-3, 2001

Added: July 14, 2009

ID: 1131

Name

1 (3 documented family members)

Phenotype

Parkinson's Disease

Inheritance

Familial

Onset Age

(3 patients)

Age at Death

Ethnic origin

Asian (Korea)

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Kim JS, Yonsei Med J 44: 336-9, 2003

Added: July 17, 2009

ID: 1199

Name

1 (1 documented family member)

Phenotype

Parkinson's Disease

Inheritance

Non-familial

Onset Age

(1 patient)

Age at Death

Ethnic origin

Asian (Korea)

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Choi JM, Neurogenetics 9: 263-9, 2008

Added: July 22, 2009

ID: 1376

Name

1 (10 documented family members)

Phenotype

Parkinson's Disease

Inheritance

Familial

Onset Age

(8 patients)

Age at Death

Ethnic origin

Asian (Japan)

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Hayashi S, Mov Disord 15: 884-8, 2000

Added: July 26, 2009

ID: 1649

Name

10 (2 documented family members)

Phenotype

Parkinson's Disease

Inheritance

Onset Age

(1 patient)

Age at Death

Ethnic origin

Caucasian (France)

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Lohmann E, Neurology 72: 110-6, 2009

Added: February 22, 2010

ID: 2049

Name

1535 (13 documented family members)

Phenotype

Parkinson's Disease

Inheritance

Familial

Onset Age

(8 patients)

Age at Death

Ethnic origin

Asian (Japan)

Mutation

PARK2 ex4del (breakpoints not mapped)
PARK2 Cys431Phe

Citations

Maruyama M, Ann Neurol 48: 245-50, 2000

Added: July 1, 2009

ID: 1111

Name

17 (1 documented family member)

Phenotype

Juvenile Parkinson's disease

Inheritance

Unknown

Onset Age

(1 patient)

Age at Death

Ethnic origin

Asian (Japan)

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Matsumine H, Neurology 50: 1340-5, 1998
Hattori N, Ann Neurol 44: 935-41, 1998

Added: June 26, 2009

ID: 1080

Name

17 (1 documented family member)

Phenotype

Parkinson's Disease

Inheritance

Onset Age

Age at Death

Ethnic origin

Notes

No sufficient data on family history, mutations and zygosity is available for this family

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Foroud T, Neurology 60: 796-801, 2003

Added: December 2, 2009

ID: 1885

Name

2 (1 documented family member)

Phenotype

Parkinson's Disease

Inheritance

Unknown

Onset Age

Age at Death

Ethnic origin

Caucasian (Russia)

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Shadrina MI, BMC Med Genet 8: , 2007

Added: July 21, 2009

ID: 1355

Name

2 (1 documented family member)

Phenotype

Parkinson's Disease

Inheritance

Non-familial

Onset Age

(1 patient)

Age at Death

Ethnic origin

Asian (Korea)

Mutation

PARK2 ex2del (breakpoints not mapped)
PARK2 ex4del (breakpoints not mapped)

Citations

Choi JM, Neurogenetics 9: 263-9, 2008

Added: July 22, 2009

ID: 1377

Name

2 (3 documented family members)

Phenotype

Parkinson's Disease

Inheritance

Familial

Onset Age

(1 patient)

Age at Death

Ethnic origin

Asian (China)

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Guo JF, Mov Disord 23: 2074-9, 2008

Added: July 22, 2009

ID: 1391

Name

2 (3 documented family members)

Phenotype

Parkinson's Disease

Inheritance

Familial

Onset Age

(3 patients)

Age at Death

Ethnic origin

Mutation

PARK2 ex2-4del (breakpoints not mapped)
PARK2 ex4del (breakpoints not mapped)

Citations

Sun M, Arch Neurol 63: 826-32, 2006

Added: July 25, 2009

ID: 1624

Name

26 (3 documented family members)

Phenotype

Parkinson's Disease

Inheritance

Familial

Onset Age

(3 patients)

Age at Death

Ethnic origin

Asian (China)

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Guo JF, Mov Disord 23: 2074-9, 2008

Added: July 22, 2009

ID: 1400

Name

28 (3 documented family members)

Phenotype

Parkinson's Disease

Inheritance

Familial

Onset Age

(2 patients)

Age at Death

Ethnic origin

Asian (China)

Mutation

PARK2 ex2del (breakpoints not mapped)
PARK2 ex4del (breakpoints not mapped)

Citations

Guo JF, Mov Disord 23: 2074-9, 2008

Added: July 22, 2009

ID: 1401

Name

3 (1 documented family member)

Phenotype

Parkinson's Disease

Inheritance

Non-familial

Onset Age

(1 patient)

Age at Death

Ethnic origin

Asian (Japan)

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Ujike H, Mov Disord 16: 111-3, 2001

Added: July 14, 2009

ID: 1133

Name

3 (1 documented family member)

Phenotype

Parkinson's Disease

Inheritance

Familial

Onset Age

(2 patients)

Age at Death

Ethnic origin

Asian (Korea)

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Choi JM, Neurogenetics 9: 263-9, 2008

Added: July 22, 2009

ID: 1378

Name

3 (4 documented family members)

Phenotype

Parkinson's Disease

Inheritance

Familial

Onset Age

(2 patients)

Age at Death

Ethnic origin

Asian (China)

Mutation

PARK2 ex4del (breakpoints not mapped)
PARK2 Gln34fs

Citations

Guo JF, Mov Disord 23: 2074-9, 2008

Added: July 22, 2009

ID: 1392

Name

30 (6 documented family members)

Phenotype

Parkinson's Disease

Inheritance

Familial

Onset Age

(4 patients)

Age at Death

Ethnic origin

Asian (China)

Mutation

PARK2 ex3del (breakpoints not mapped)
PARK2 ex4del (breakpoints not mapped)

Citations

Guo JF, Mov Disord 23: 2074-9, 2008

Added: July 22, 2009

ID: 1403

Name

324 (1 documented family member)

Phenotype

Parkinson's Disease

Inheritance

Onset Age

Age at Death

Ethnic origin

Caucasian (Germany)

Mutation

PARK2 ex4del (breakpoints not mapped)
PARK2 ex7dup (breakpoints not mapped)
PARK2 ex9dup (breakpoints not mapped)

Citations

Kann M, Ann Neurol 51: 621-5, 2002

Added: July 14, 2009

ID: 1140

Name

33.66 (2 documented family members)

Phenotype

Parkinson's Disease

Inheritance

Autosomal recessive

Onset Age

(2 patients)

Age at Death

Ethnic origin

Caucasian (afrikaner) (South Africa)

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Bardien S, Parkinsonism Relat Disord 15: 116-21, 2009
Keyser RJ, Neurogenetics Epub: , 2009

Added: July 22, 2009

ID: 1461

Name

359 (1 documented family member)

Phenotype

Parkinson's Disease

Inheritance

Onset Age

Age at Death

Ethnic origin

Caucasian (Germany)

Mutation

PARK2 ex4del (breakpoints not mapped)
PARK2 Arg275Trp

Citations

Kann M, Ann Neurol 51: 621-5, 2002

Added: July 14, 2009

ID: 1141

Name

4 (1 documented family member)

Phenotype

Parkinson's Disease

Inheritance

Non-familial

Onset Age

(1 patient)

Age at Death

Ethnic origin

Asian (Japan)

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Ujike H, Mov Disord 16: 111-3, 2001

Added: July 14, 2009

ID: 1134

Name

4 (1 documented family member)

Phenotype

Parkinson's Disease

Inheritance

Familial

Onset Age

(4 patients)

Age at Death

Ethnic origin

Caucasian (Netherlands)

Mutation

PARK2 ex4del (breakpoints not mapped)
PARK2 ex7dup (breakpoints not mapped)

Citations

Macedo MG, Mov Disord 24: 196-203, 2009

Added: July 23, 2009

ID: 1523

Name

455 (4 documented family members)

Phenotype

Parkinson's Disease

Inheritance

Familial

Onset Age

(2 patients)

Age at Death

Ethnic origin

Asian (Japan)

Mutation

PARK2 ex2-4del (breakpoints not mapped)
PARK2 ex4del (breakpoints not mapped)

Citations

Maruyama M, Ann Neurol 48: 245-50, 2000

Added: July 1, 2009

ID: 1106

Name

561 (1 documented family member)

Phenotype

Parkinson's Disease

Inheritance

Onset Age

Age at Death

Ethnic origin

Caucasian (Germany)

Mutation

PARK2 ex4del (breakpoints not mapped)
PARK2 Lys211Asn

Citations

Kann M, Ann Neurol 51: 621-5, 2002

Added: July 14, 2009

ID: 1143

Name

6 (1 documented family member)

Phenotype

Juvenile Parkinson's disease

Inheritance

Familial

Onset Age

(2 patients)

Age at Death

Ethnic origin

Asian (Japan)

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Matsumine H, Neurology 50: 1340-5, 1998
Hattori N, Ann Neurol 44: 935-41, 1998

Added: June 26, 2009

ID: 1078

Name

6 (2 documented family members)

Phenotype

Parkinson's Disease

Inheritance

Familial

Onset Age

(1 patient)

Age at Death

Ethnic origin

Asian (China)

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Guo JF, Mov Disord 23: 2074-9, 2008

Added: July 22, 2009

ID: 1393

Name

7 (1 documented family member)

Phenotype

Juvenile Parkinson's disease

Inheritance

Familial

Onset Age

(2 patients)

Age at Death

Ethnic origin

Asian (Japan)

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Matsumine H, Neurology 50: 1340-5, 1998
Hattori N, Ann Neurol 44: 935-41, 1998

Added: June 26, 2009

ID: 1079

Name

8 (4 documented family members)

Phenotype

Parkinson's Disease

Inheritance

Familial

Onset Age

(2 patients)

Age at Death

Ethnic origin

Asian (China)

Mutation

PARK2 ex3del (breakpoints not mapped)
PARK2 ex4del (breakpoints not mapped)

Citations

Guo JF, Mov Disord 23: 2074-9, 2008

Added: July 22, 2009

ID: 1394

Name

8 (1 documented family member)

Phenotype

Parkinson's Disease

Inheritance

Non-familial

Onset Age

(1 patient)

Age at Death

Ethnic origin

Caucasian (Netherlands)

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Macedo MG, Mov Disord 24: 196-203, 2009

Added: July 23, 2009

ID: 1527

Name

9 (1 documented family member)

Phenotype

Parkinson's Disease

Inheritance

Onset Age

(1 patient)

Age at Death

Ethnic origin

Caucasian (France)

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Lohmann E, Neurology 72: 110-6, 2009

Added: February 22, 2010

ID: 2048

Name

B2 (1 documented family member)

Phenotype

Parkinson's Disease

Inheritance

Familial

Onset Age

(2 patients)

Age at Death

Ethnic origin

Mutation

PARK2 ex4del (breakpoints not mapped)
PARK2 Arg42Pro

Citations

Hedrich K, Neurology 58: 1239-46, 2002

Added: July 16, 2009

ID: 1169

Name

EOP8 (3 documented family members)

Phenotype

Parkinson's Disease

Inheritance

Familial

Onset Age

(2 patients)

Age at Death

Ethnic origin

Chinese (Taiwan)

Mutation

PARK2 ex4del (breakpoints not mapped)
PARK2 Cys441Arg

Citations

Lee MJ, Mov Disord 24: 104-8, 2009

Added: July 23, 2009

ID: 1518

Name

EOP9 (4 documented family members)

Phenotype

Parkinson's Disease

Inheritance

Familial

Onset Age

(2 patients)

Age at Death

Ethnic origin

Chinese (Taiwan)

Mutation

PARK2 ex4del (breakpoints not mapped)
PARK2 Cys441Arg

Citations

Lee MJ, Mov Disord 24: 104-8, 2009

Added: July 23, 2009

ID: 1519

Name

EP17 (1 documented family member)

Phenotype

Parkinson's Disease

Inheritance

Non-familial

Onset Age

(1 patient)

Age at Death

Ethnic origin

Han Chinese (China)

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Wang T, Chin Med J 117: 1567-9, 2004

Added: February 22, 2010

ID: 2065

Name

fam3 (1 documented family member)

Phenotype

Juvenile Parkinson's disease

Inheritance

Unknown

Onset Age

(1 patient)

Age at Death

Ethnic origin

Asian (Japan)

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Kitada T, Nature 392: 605-8, 1998

Added: June 25, 2009

ID: 1071

Name

fam4 (1 documented family member)

Phenotype

Juvenile Parkinson's disease

Inheritance

Unknown

Onset Age

(1 patient)

Age at Death

Ethnic origin

Asian (Japan)

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Kitada T, Nature 392: 605-8, 1998

Added: June 25, 2009

ID: 1072

Name

famF (10 documented family members)

Phenotype

Parkinson's Disease

Inheritance

Familial

Onset Age

(2 patients)

Age at Death

Ethnic origin

(Jordan)

Mutation

PARK2 ex4del (breakpoints not mapped)
PINK1 Ala340Thr
PINK1 Glu476Lys
PINK1 Asn521Thr

Citations

Myhre R, BMC Neurol 8: , 2008

Added: July 27, 2009

ID: 1670

Name

Formosa1 (5 documented family members)

Phenotype

Parkinson's Disease

Inheritance

Familial

Onset Age

(3 patients)

Age at Death

Ethnic origin

Chinese (Taiwan)

Mutation

PARK2 ex3del (breakpoints not mapped)
PARK2 ex4del (breakpoints not mapped)

Citations

Wu RM, Mov Disord 17: 670-5, 2002

Added: July 27, 2009

ID: 1664

Name

FPD029-004 (1 documented family member)

Phenotype

Parkinson's Disease

Inheritance

Familial

Onset Age

(2 patients)

Age at Death

Ethnic origin

Caucasian (France)

Mutation

PARK2 ex4del (breakpoints not mapped)
PARK2 Met1Leu

Citations

Rawal N, Neurology 60: 1378-81, 2003

Added: July 20, 2009

ID: 1232

Name

FPD267-016 (1 documented family member)

Phenotype

Parkinson's Disease

Inheritance

Familial

Onset Age

(2 patients)

Age at Death

Ethnic origin

Latin American (Brazil)

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Rawal N, Neurology 60: 1378-81, 2003

Added: July 20, 2009

ID: 1227

Name

IT005 (3 documented family members)

Phenotype

Parkinson's Disease

Inheritance

Familial

Onset Age

(3 patients)

Age at Death

Ethnic origin

Caucasian (Italy)

Mutation

PARK2 ex4del (breakpoints not mapped) (Segregation Proven)

Citations

Abbas N, Hum Mol Genet 8: 567-74, 1999

Added: June 26, 2009

ID: 1088

Name

ND05921 (1 documented family member)

Phenotype

Parkinson's Disease

Inheritance

Familial

Onset Age

(2 patients)

Age at Death

Ethnic origin

Caucasian

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Brooks J, J Med Genet 46: 375-81, 2009

Added: July 23, 2009

ID: 1489

Name

patient1 (1 documented family member)

Phenotype

Parkinson's Disease

Inheritance

Non-familial

Onset Age

(1 patient)

Age at Death

Ethnic origin

Asian (China)

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Guo JF, J Neurol Epub: , 2010

Added: February 19, 2010

ID: 1999

Name

patient11 (1 documented family member)

Phenotype

Parkinson's Disease

Inheritance

Non-familial

Onset Age

(1 patient)

Age at Death

Ethnic origin

Asian (China)

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Guo JF, J Neurol Epub: , 2010

Added: February 19, 2010

ID: 2009

Name

patient6 (1 documented family member)

Phenotype

Parkinson's Disease

Inheritance

Non-familial

Onset Age

(1 patient)

Age at Death

Ethnic origin

Asian (China)

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Guo JF, J Neurol Epub: , 2010

Added: February 19, 2010

ID: 2004

Name

patient8 (1 documented family member)

Phenotype

Parkinson's Disease

Inheritance

Non-familial

Onset Age

(1 patient)

Age at Death

Ethnic origin

Asian (China)

Mutation

PARK2 ex4del (breakpoints not mapped)

Citations

Guo JF, J Neurol Epub: , 2010

Added: February 19, 2010

ID: 2006

Name

SPD181-009 (1 documented family member)

Phenotype

Parkinson's Disease

Inheritance

Non-familial

Onset Age

(1 patient)

Age at Death

Ethnic origin

Caucasian (France)

Mutation

PARK2 ex4del (breakpoints not mapped)
PARK2 Arg275Trp

Citations

Periquet M, Brain 126: 1271-8, 2003
Lesage S, J Med Genet 45: 43-6, 2008

Added: July 20, 2009

ID: 1216


Selection:
Mutation ID In ('144')



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