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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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