Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks: remarks about the individual
Gender: gender individual
All options:
- ? = unknown
- - = not applicable
- F = female
- M = male
- rF = raised as female
- rM = raised as male
Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
- ? = unknown
- - = not applicable
- no = non-consanguineous parents
- yes = consanguineous parents
Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
- ? (unknown)
- - (not applicable)
- Afghanistan
- (Afghanistan)
- Albania
- (Albania)
- Algeria
- (Algeria)
- American Samoa
- (American Samoa)
- Andorra
- (Andorra)
- Angola
- (Angola)
- Anguilla
- (Anguilla)
- Antarctica
- (Antarctica)
- Antigua and Barbuda
- (Antigua and Barbuda)
- Argentina
- (Argentina)
- Armenia
- (Armenia)
- Aruba
- (Aruba)
- Australia
- (Australia)
- Austria
- (Austria)
- Azerbaijan
- (Azerbaijan)
- Bahamas
- (Bahamas)
- Bahrain
- (Bahrain)
- Bangladesh
- (Bangladesh)
- Barbados
- (Barbados)
- Belarus
- (Belarus)
- Belgium
- (Belgium)
- Belize
- (Belize)
- Benin
- (Benin)
- Bermuda
- (Bermuda)
- Bhutan
- (Bhutan)
- Bolivia
- (Bolivia)
- Bosnia and Herzegovina
- (Bosnia and Herzegovina)
- Botswana
- (Botswana)
- Bouvet Island
- (Bouvet Island)
- Brazil
- (Brazil)
- British Indian Ocean Territory
- (British Indian Ocean Territory)
- Brunei Darussalam
- (Brunei Darussalam)
- Bulgaria
- (Bulgaria)
- Burkina Faso
- (Burkina Faso)
- Burundi
- (Burundi)
- Cambodia
- (Cambodia)
- Cameroon
- (Cameroon)
- Canada
- (Canada)
- Cape Verde
- (Cape Verde)
- Cayman Islands
- (Cayman Islands)
- Central African Republic
- (Central African Republic)
- Central Europe
- Chad
- (Chad)
- Chile
- (Chile)
- China
- (China)
- Christmas Island
- (Christmas Island)
- Cocos (Keeling Islands)
- (Cocos (Keeling Islands))
- Colombia
- (Colombia)
- Comoros
- (Comoros)
- Congo
- (Congo)
- Cook Islands
- (Cook Islands)
- Costa Rica
- (Costa Rica)
- Cote D'Ivoire (Ivory Coast)
- (Cote D'Ivoire (Ivory Coast))
- Croatia (Hrvatska)
- (Croatia (Hrvatska))
- Cuba
- (Cuba)
- Cyprus
- (Cyprus)
- Czech Republic
- (Czech Republic)
- Denmark
- (Denmark)
- Djibouti
- (Djibouti)
- Dominica
- (Dominica)
- Dominican Republic
- (Dominican Republic)
- East Timor
- (East Timor)
- Ecuador
- (Ecuador)
- Egypt
- (Egypt)
- El Salvador
- (El Salvador)
- England
- (England)
- Equatorial Guinea
- (Equatorial Guinea)
- Eritrea
- (Eritrea)
- Estonia
- (Estonia)
- Ethiopia
- (Ethiopia)
- Falkland Islands (Malvinas)
- (Falkland Islands (Malvinas))
- Faroe Islands
- (Faroe Islands)
- Fiji
- (Fiji)
- Finland
- (Finland)
- France
- (France)
- Gabon
- (Gabon)
- Gambia
- (Gambia)
- Georgia
- (Georgia)
- Germany
- (Germany)
- Ghana
- (Ghana)
- Gibraltar
- (Gibraltar)
- Greece
- (Greece)
- Greenland
- (Greenland)
- Grenada
- (Grenada)
- Guadeloupe
- (Guadeloupe)
- Guam
- (Guam)
- Guatemala
- (Guatemala)
- Guiana, French
- (Guiana, French)
- Guinea
- (Guinea)
- Guinea-Bissau
- (Guinea-Bissau)
- Guyana
- (Guyana)
- Haiti
- (Haiti)
- Heard and McDonald Islands
- (Heard and McDonald Islands)
- Honduras
- (Honduras)
- Hong Kong
- (Hong Kong)
- Hungary
- (Hungary)
- Iceland
- (Iceland)
- India
- (India)
- Indonesia
- (Indonesia)
- Iran
- (Iran)
- Iraq
- (Iraq)
- Ireland
- (Ireland)
- Israel
- (Israel)
- Italy
- (Italy)
- Jamaica
- (Jamaica)
- Japan
- (Japan)
- Jordan
- (Jordan)
- Kazakhstan
- (Kazakhstan)
- Kenya
- (Kenya)
- Kiribati
- (Kiribati)
- Korea
- (Korea)
- Korea, North (People's Republic)
- (Korea, North (People's Republic))
- Korea, South (Republic)
- (Korea, South (Republic))
- Kosovo
- (Kosovo)
- Kuwait
- (Kuwait)
- Kyrgyzstan (Kyrgyz Republic)
- (Kyrgyzstan (Kyrgyz Republic))
- Laos
- (Laos)
- Latvia
- (Latvia)
- Lebanon
- (Lebanon)
- Lesotho
- (Lesotho)
- Liberia
- (Liberia)
- Libya
- (Libya)
- Liechtenstein
- (Liechtenstein)
- Lithuania
- (Lithuania)
- Luxembourg
- (Luxembourg)
- Macau
- (Macau)
- Macedonia
- (Macedonia)
- Madagascar
- (Madagascar)
- Malawi
- (Malawi)
- Malaysia
- (Malaysia)
- Maldives
- (Maldives)
- Mali
- (Mali)
- Mallorca
- (Mallorca)
- Malta
- (Malta)
- Marshall Islands
- (Marshall Islands)
- Martinique
- (Martinique)
- Mauritania
- (Mauritania)
- Mauritius
- (Mauritius)
- Mayotte
- (Mayotte)
- Mexico
- (Mexico)
- Micronesia
- (Micronesia)
- Moldova
- (Moldova)
- Monaco
- (Monaco)
- Mongolia
- (Mongolia)
- Montserrat
- (Montserrat)
- Morocco
- (Morocco)
- Mozambique
- (Mozambique)
- Myanmar
- (Myanmar)
- Namibia
- (Namibia)
- Nauru
- (Nauru)
- Nepal
- (Nepal)
- Netherlands
- (Netherlands)
- Netherlands Antilles
- (Netherlands Antilles)
- Neutral Zone (Saudia Arabia/Iraq)
- (Neutral Zone (Saudia Arabia/Iraq))
- New Caledonia
- (New Caledonia)
- New Zealand
- (New Zealand)
- Nicaragua
- (Nicaragua)
- Niger
- (Niger)
- Nigeria
- (Nigeria)
- Niue
- (Niue)
- Norfolk Island
- (Norfolk Island)
- Northern Ireland
- (Northern Ireland)
- Northern Mariana Islands
- (Northern Mariana Islands)
- Norway
- (Norway)
- Oman
- (Oman)
- Pakistan
- (Pakistan)
- Palau
- (Palau)
- Palestine
- (Palestine)
- Panama
- (Panama)
- Papua New Guinea
- (Papua New Guinea)
- Paraguay
- (Paraguay)
- Peru
- (Peru)
- Philippines
- (Philippines)
- Pitcairn
- (Pitcairn)
- Poland
- (Poland)
- Polynesia, French
- (Polynesia, French)
- Portugal
- (Portugal)
- Puerto Rico
- (Puerto Rico)
- Qatar
- (Qatar)
- Reunion
- (Reunion)
- Romania
- (Romania)
- Russia
- (Russia)
- Russian Federation
- (Russian Federation)
- Rwanda
- (Rwanda)
- S. Georgia and S. Sandwich Isls.
- (S. Georgia and S. Sandwich Isls.)
- Saint Kitts and Nevis
- (Saint Kitts and Nevis)
- Saint Lucia
- (Saint Lucia)
- Saint Vincent and The Grenadines
- (Saint Vincent and The Grenadines)
- Samoa
- (Samoa)
- San Marino
- (San Marino)
- Sao Tome and Principe
- (Sao Tome and Principe)
- Saudi Arabia
- (Saudi Arabia)
- Scotland
- (Scotland)
- Senegal
- (Senegal)
- Serbia
- (Serbia)
- Seychelles
- (Seychelles)
- Sierra Leone
- (Sierra Leone)
- Singapore
- (Singapore)
- Slovakia (Slovak Republic)
- (Slovakia (Slovak Republic))
- Slovenia
- (Slovenia)
- Solomon Islands
- (Solomon Islands)
- Somalia
- (Somalia)
- South Africa
- (South Africa)
- Southern Territories, French
- (Southern Territories, French)
- Soviet Union (former)
- (Soviet Union (former))
- Spain
- (Spain)
- Sri Lanka
- (Sri Lanka)
- St. Helena, Ascension and Tristan da
- Cunha
- (St. Helena, Ascension and Tristan da
- Cunha)
- St. Pierre and Miquelon
- (St. Pierre and Miquelon)
- Sudan
- (Sudan)
- Sudan, South
- (Sudan, South)
- Suriname
- (Suriname)
- Svalbard and Jan Mayen Islands
- (Svalbard and Jan Mayen Islands)
- Swaziland
- (Swaziland)
- Sweden
- (Sweden)
- Switzerland
- (Switzerland)
- Syria
- (Syria)
- Taiwan
- (Taiwan)
- Tajikistan
- (Tajikistan)
- Tanzania
- (Tanzania)
- Thailand
- (Thailand)
- Togo
- (Togo)
- Tokelau
- (Tokelau)
- Tonga
- (Tonga)
- Trinidad and Tobago
- (Trinidad and Tobago)
- Tunisia
- (Tunisia)
- Turkey
- (Turkey)
- Turkmenistan
- (Turkmenistan)
- Turks and Caicos Islands
- (Turks and Caicos Islands)
- Tuvalu
- (Tuvalu)
- Uganda
- (Uganda)
- Ukraine
- (Ukraine)
- United Arab Emirates
- (United Arab Emirates)
- United Kingdom (Great Britain)
- (United Kingdom (Great Britain))
- United States
- (United States)
- Uruguay
- (Uruguay)
- US Minor Outlying Islands
- (US Minor Outlying Islands)
- Uzbekistan
- (Uzbekistan)
- Vanuatu
- (Vanuatu)
- Vatican City State (Holy See)
- (Vatican City State (Holy See))
- Venezuela
- (Venezuela)
- Viet Nam
- (Viet Nam)
- Virgin Islands (British)
- (Virgin Islands (British))
- Virgin Islands (US)
- (Virgin Islands (US))
- Wales
- (Wales)
- Wallis and Futuna Islands
- (Wallis and Futuna Islands)
- Western Sahara
- (Western Sahara)
- Yemen
- (Yemen)
- Yugoslavia
- (Yugoslavia)
- Zaire
- (Zaire)
- Zambia
- (Zambia)
- Zimbabwe
- (Zimbabwe)
Population: population the individual (or ancestors) belongs to; e.g. African, white, gypsy, jew (Ashkenazi), Sardinian, etc.
Age at death: age at which the individual deceased (when applicable):
- 35y = 35 years
- >43y = still alive at 43y
- 04y08m = 4 years and 8 months
- 00y00m01d12h = 1 day and 12 hours
- 18y? = around 18 years
- 30y-40y = between 30 and 40 years
- >54y = older than 54
- ? = unknown
VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator.
NOTE: to get VIP status ask the curator.
Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment: treatment of patient
Variants in genes: The individual has variants for this gene.
Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

 Individual ID
|

 ID_report
|

 Reference
|
 Remarks
|

 Gender
|

 Consanguinity
|

 Country
|

 Population
|

 Age at death
|

 VIP
|

 Data_av
|

 Treatment
|

 Disease
|

 Phenotype details
|
 Genes screened
|
 Variants in genes
|

 Variants
|

 Panel size
|

 Owner
|
00240397 |
Family 5 |
PubMed: Tian 2019, Journal: Tian 2019 |
2-generation family, 3 affected brothers |
M |
no |
China |
- |
- |
0 |
- |
- |
PARK |
see paper; ... |
NOTCH2NLC |
NOTCH2NLC |
1 |
3 |
Johan den Dunnen |
00240398 |
Family 6 |
PubMed: Tian 2019, Journal: Tian 2019 |
2-generation family, affected father/2 brothers |
M |
no |
China |
- |
- |
0 |
- |
- |
PARK |
see paper; ... |
NOTCH2NLC |
NOTCH2NLC |
1 |
3 |
Johan den Dunnen |
00240399 |
Family 7 |
PubMed: Tian 2019, Journal: Tian 2019 |
2-generation family, affected father/daughter/son (F, 2M) |
F;M |
no |
China |
- |
- |
0 |
- |
- |
PARK |
- |
NOTCH2NLC |
NOTCH2NLC |
1 |
3 |
Johan den Dunnen |
00275540 |
FamA |
PubMed: Straniero 2017 |
2-generation family, affected brother/sister, unaffected parents/relatives |
F;M |
- |
Canada |
- |
- |
0 |
- |
- |
PARK |
see paper; ..., early-onset Parkinsonism |
DNAJC12 |
DNAJC12 |
1 |
2 |
Johan den Dunnen |
00275541 |
FamB |
PubMed: Straniero 2017 |
2-generation family, affected brother/sister, unaffected parents/relatives |
F;M |
yes |
Italy |
- |
- |
0 |
- |
- |
PARK |
see paper; ..., early-onset Parkinsonism |
DNAJC12 |
DNAJC12 |
1 |
2 |
Johan den Dunnen |
00286192 |
FamAusPatII3 |
PubMed: Wilsoni 2014 |
2-generation family, 3 affected brothers, unaffected heterozygous carrier mother |
M |
- |
Australia |
- |
- |
0 |
- |
- |
PARK |
normal pregnancy/birth; delayed early motor milestones; delayed speech initiation; early learning difficulties; intellectual disability; not able to read, able to write; no independent living; obsessional behavior; ritualistic behavior; tremor onset late childhood; postural/upper limb tremor; no choreoathetosis; no shuffling gait; no bradykinesia; no dyskinesia; no cogwheel rigidity; no hyopkinetic dysarthria; normal cerebellar function; no autism; no seizures; macrocephaly; no frontal bossing; normal eye examination; no strabismus; no iris coloboma; no hydrops; no dysmorphism; no high arched palate; no dementia; no skin depigmented papules; normal copper testing; normal blood count and chemistry; normal urine metabolic testing |
RAB39B |
CLIC2, RAB39B |
1 |
3 |
Johan den Dunnen |
00286193 |
FamAusPatII2 |
PubMed: Wilsoni 2014 |
PatII2 |
M |
- |
Australia |
- |
- |
0 |
- |
- |
PARK |
normal pregnancy/birth; no delayed early motor milestones; delayed speech initiation; early learning difficulties; intellectual disability; able to read, able to write; no independent living; no obsessional behavior; no ritualistic behavior; 38y-tremor onset; 44y-parkinsonism diagnosis; akinetic‐rigid Parkinsonism; postural/upper limb tremor; no choreoathetosis; shuffling gait; bradykinesia; dyskinesia; cogwheel rigidity; L‐dopa response; hyopkinetic dysarthria; normal cerebellar function; no autism; no seizures; macrocephaly; no frontal bossing; normal eye examination; no strabismus; no iris coloboma; no hydrops; no dysmorphism; no high arched palate; no dementia; no skin depigmented papules; MRI normal; normal copper testing; normal blood count and chemistry; normal urine metabolic testing |
RAB39B |
RAB39B |
1 |
1 |
Johan den Dunnen |
00286194 |
FamAusPatII1 |
PubMed: Wilsoni 2014 |
PatII1 |
M |
- |
Australia |
- |
- |
0 |
- |
- |
PARK |
normal pregnancy/birth; no delayed early motor milestones; delayed speech initiation; early learning difficulties; intellectual disability; able to read, able to write; no independent living; no obsessional behavior; no ritualistic behavior; 44y-tremor onset; 45y-parkinsonism diagnosis; akinetic‐rigid Parkinsonism; postural/upper limb tremor; no choreoathetosis; shuffling gait; bradykinesia; dyskinesia; cogwheel rigidity; L‐dopa response (with side effects); hyopkinetic dysarthria; normal cerebellar function; no autism; no seizures; macrocephaly; no frontal bossing; normal eye examination; no strabismus; no iris coloboma; no hydrops; no dysmorphism; no high arched palate; dementia; no skin depigmented papules; MRI T2 weighted slight bilateral reduction signal intensity substantia nigra and globus pallidus; normal copper testing; normal blood count and chemistry; normal urine metabolic testing |
RAB39B |
RAB39B |
1 |
1 |
Johan den Dunnen |
00286195 |
FamWis |
PubMed: Wilsoni 2014 |
3-generation family, 7 affected (7M), 2 unaffected heterozygous carrier mothers |
M |
- |
United States |
- |
- |
0 |
- |
- |
PARK |
normal pregnancy/birth; delayed early motor milestones; delayed speech initiation; early learning difficulties; intellectual disability; able to read, able to write; independent living; hyperactive/disruptive behaviour (1/6); 10‐20s tremor onset; 20s-parkinsonism diagnosis; postural/upper limb tremor (4/6); choreoathetosis (1/6); shuffling gait (5/6); bradykinesia; cogwheel rigidity; no L‐dopa response (3/3); hyopkinetic dysarthria; normal cerebellar function; seizures (2/6); macrocephaly; frontal bossing; normal eye examination (4/6); strabismus (1/6); iris coloboma (1/6); hydrops (1/6); high arched palate (5/6); skin depigmented papules 4/6; CT-scan megalencephaly; EEG abnormal (2/6); normal copper testing; normal blood count and chemistry; normal urine metabolic testing |
RAB39B |
RAB39B |
1 |
7 |
Johan den Dunnen |
00286197 |
Family |
PubMed: Mata 2016 |
4-generation family, 7 affected (2F, 5M), unaffected heterozygous carrier parents; 5 affected males, 1 unaffected carrier male (41y) |
M |
no |
United States |
Europe |
- |
0 |
- |
- |
PARK |
see paper; ..., bradykinesia, rigidity, resting tremor, postural instability, unilateral onset, Levodopa response(4/4), Levodopa-induced dyskinesia (3/4), mild intellectual disability (2/5) |
RAB39B |
MVP, RAB39B, USP1 |
3 |
7 |
Johan den Dunnen |
00286198 |
Family |
PubMed: Mata 2016 |
2 affected/3 unaffected heterozygous carrier females |
F |
no |
United States |
Europe |
- |
0 |
- |
- |
PARK |
see paper; ..., bradykinesia, rigidity, resting tremor (1/2), postural instability (1/2), unilateral onset, Levodopa response, Levodopa-induced dyskinesia (1/2), no mild intellectual disability |
RAB39B |
RAB39B |
1 |
2 |
Johan den Dunnen |
00286199 |
Fam |
PubMed: Mata 2016 |
family from PaGeR cohorts, affected female (affected father not analysed |
F |
- |
United States |
- |
- |
0 |
- |
- |
PARK |
- |
RAB39B |
RAB39B |
1 |
1 |
Johan den Dunnen |
00286200 |
Fam |
PubMed: Mata 2016 |
family from PaGeR cohorts, affected female (affected father not analysed |
F |
- |
United States |
- |
- |
0 |
- |
- |
PARK |
- |
RAB39B |
RAB39B |
1 |
1 |
Johan den Dunnen |
00287082 |
Fam1PatII2 |
PubMed: Cen 2020 |
2-generation family, affected brother/sister, unaffected heterozygous carrier parents (first cousins) |
M |
yes |
China |
- |
- |
0 |
- |
- |
PARK |
see paper; ..., Parkinsonism, slurred speech; calcification basal ganglia, thalamus, dentate nuclei, vermis, cortex, subcortical white matter, midbrain |
JAM2 |
JAM2 |
1 |
2 |
Johan den Dunnen |
00287083 |
Fam1PatII3 |
PubMed: Cen 2020 |
sister |
F |
yes |
China |
- |
- |
0 |
- |
- |
PARK |
see paper; ..., Parkinsonism, slurred speech, seizures; calcification basal ganglia, thalamus, dentate nuclei, vermis, cortex, subcortical white matter, midbrain, pons, medulla |
JAM2 |
JAM2 |
1 |
1 |
Johan den Dunnen |
00287084 |
Fam2PatII2 |
PubMed: Cen 2020 |
2-generation family, 1 affected, unaffected heterozygous carrier parents (first cousins) |
F |
yes |
China |
- |
- |
0 |
- |
- |
PARK |
see paper; ..., numbness feet, dizziness (syncope); calcification basal ganglia, thalamus, dentate nuclei, cortex, subcortical white matter |
JAM2 |
JAM2 |
1 |
1 |
Johan den Dunnen |
00287085 |
Fam3PatII1 |
PubMed: Cen 2020 |
2-generation family, 1 affected, unaffected heterozygous carrier parents |
F |
no |
China |
- |
- |
0 |
- |
- |
PARK |
see paper; ..., Parkinsonism, slurred speech; calcification basal ganglia, thalamus, dentate nuclei, cortex, subcortical white matter, midbrain |
JAM2 |
JAM2 |
2 |
1 |
Johan den Dunnen |
00305354 |
139749 |
- |
- |
F |
? |
? (unknown) |
- |
- |
0 |
- |
- |
PARK |
Early onset of Parkinson's syndrome (ED 32. LJ.), positive family history (both grandfathers are affected) |
DSC2 |
DSC2 |
1 |
1 |
Andreas Laner |
00312527 |
- |
PubMed: Kumar 2012 |
affected father, paternal uncle, paternal aunt, paternal grandfather all deceased |
M |
- |
Germany |
white |
- |
0 |
- |
LDopa responsive |
PARK |
bradykinesia; resting tremor (HP:0002322); rigidity (HP:0002063); postural instability (HP:0002172); no dystonia (-HP:0001332); normal REM sleep (-HP:0002494); 60y-SCID revealed no psychiatric diagnosis; 47y-MMSE 29/30, 60y-MMSE 29/30, PANDA 17/30, MOCA 23/30; severe hyposmia, UPSIT: 10th percentile; hyperhidrosis; no pathology report, subject still alive at time of study |
VPS35 |
VPS35 |
1 |
1 |
The Parkinson's Institute - Birgitt Schuele |
00312531 |
- |
PubMed: Ibanez 2006 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312532 |
- |
PubMed: Valente 2004 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312533 |
- |
PubMed: Valente 2004 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312534 |
- |
PubMed: Marongiu 2008 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
starts in lower limb, gait impairment, urinary urgancy,slower progression |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312535 |
- |
PubMed: Marongiu 2008 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312536 |
- |
PubMed: Ibanez 2006 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312538 |
- |
PubMed: Healy 2004 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312539 |
- |
PubMed: Bonifati 2005 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312540 |
- |
PubMed: Valente 2004 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312541 |
- |
PubMed: Djarmati 2006 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
slow progr, present motor fluctuation |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312542 |
- |
PubMed: Weng 2007 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312543 |
- |
PubMed: Bonifati 2005 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312544 |
- |
PubMed: Djarmati 2006 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312545 |
- |
PubMed: Leutenegger 2006 |
- |
- |
- |
Sudan |
- |
- |
0 |
- |
- |
PARK |
juvenile onset AAO:9-17, clinically varying from dopa responsive dystonia to EOPD |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312546 |
- |
PubMed: Bonifati 2005 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312547 |
- |
PubMed: Hatano 2004 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312548 |
- |
PubMed: Ibanez 2006 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312549 |
- |
PubMed: Rogaeva 2004 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312550 |
- |
PubMed: Hatano 2004 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312551 |
- |
PubMed: Tan 2006 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312552 |
- |
PubMed: Tan 2006 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312554 |
- |
PubMed: Tan 2005 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312555 |
- |
PubMed: Hatano 2004 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312556 |
- |
PubMed: Klein 2005 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312557 |
- |
PubMed: Tan 2006 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312558 |
- |
PubMed: Valente 2004 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312559 |
- |
PubMed: Savettieri 2008 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
cognitive decline |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312560 |
- |
PubMed: Valente 2004 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312561 |
- |
PubMed: Christi 2006 |
13 heterozygous was not affected |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312562 |
- |
PubMed: Tan 2007 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312563 |
- |
PubMed: Bonifati 2005 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312564 |
- |
PubMed: Marongiu 2008 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312565 |
- |
PubMed: Bonifati 2005 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312566 |
- |
PubMed: Weng 2007 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312567 |
- |
PubMed: Hatano 2004 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312568 |
- |
PubMed: Rogaeva 2004 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312569 |
- |
PubMed: Ibanez 2006 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312570 |
- |
PubMed: Li 2005 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312571 |
- |
PubMed: Tan 2007 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312572 |
- |
PubMed: Ibanez 2006 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312573 |
- |
PubMed: Li 2005 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312574 |
- |
PubMed: Marongiu 2008 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312575 |
- |
PubMed: Tang 2006 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312576 |
- |
PubMed: Tang 2006 |
family, two affected siblings |
- |
- |
China |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
2 |
The Parkinson's Institute - Birgitt Schuele |
00312577 |
- |
PubMed: Fung 2005 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312578 |
- |
PubMed: Ibanez 2006 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312579 |
- |
PubMed: Mellick 2008 |
1 het |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312580 |
- |
PubMed: Tan 2007 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312581 |
- |
PubMed: Zadikoff |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312582 |
- |
PubMed: Toft 2007 |
AAO:43;50; excellent ldopa respons but early dyskinesias |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312583 |
- |
PubMed: Hatano 2004 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312584 |
- |
PubMed: Bonifati 2005 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312585 |
- |
PubMed: Tan 2007 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312586 |
- |
PubMed: Bonifati 2005 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312587 |
- |
PubMed: Valente 2004 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312588 |
- |
PubMed: Marongiu 2008 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312589 |
- |
PubMed: Valente 2004 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312590 |
- |
PubMed: Tan 2007 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312591 |
- |
{PMID16009891Bonifati 2005} |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312592 |
- |
PubMed: Ibanez 2006 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312593 |
- |
PubMed: Valente 2004 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312594 |
- |
PubMed: Bonifati 2005 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312595 |
- |
PubMed: Valente 2004 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312596 |
- |
PubMed: Rogaeva 2004 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312597 |
- |
PubMed: Hatano 2004 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312598 |
- |
PubMed: Ibanez 2006 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312599 |
- |
PubMed: Toft 2007 |
1 case heteroz, AAO:58, slow progression, |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312600 |
- |
PubMed: Tan 2007 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312601 |
- |
PubMed: Ibanez 2006 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312602 |
- |
PubMed: Weng 2007 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312603 |
- |
PubMed: Valente 2004 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312604 |
- |
PubMed: Bonifati 2005 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312605 |
- |
PubMed: Rohe 2004 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312606 |
- |
PubMed: Klein 2005 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312607 |
- |
PubMed: Ibanez 2006 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312608 |
- |
PubMed: Tan 2007 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
- |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312609 |
- |
PubMed: Marongiu 2008 |
- |
- |
- |
- |
- |
- |
0 |
- |
- |
PARK |
early dyskinesias |
PINK1 |
PINK1 |
1 |
0 |
The Parkinson's Institute - Birgitt Schuele |
00312614 |
- |
PubMed: Bonifati 2003 |
- |
- |
- |
Netherlands |
- |
- |
0 |
- |
- |
PARK |
- |
PARK7 |
PARK7 |
1 |
1 |
The Parkinson's Institute - Birgitt Schuele |
00312615 |
- |
PubMed: Hague 2003 |
no family history |
- |
- |
- |
Hispanic |
- |
0 |
- |
- |
PARK |
- |
PARK7 |
PARK7 |
2 |
1 |
The Parkinson's Institute - Birgitt Schuele |
00312616 |
- |
PubMed: Abou-Sleiman 2003 |
age onset at 39 |
- |
- |
- |
Ashkenazi-Jewish |
- |
0 |
- |
- |
PARK |
- |
PARK7 |
PARK7 |
1 |
1 |
The Parkinson's Institute - Birgitt Schuele |
00312617 |
- |
PubMed: Tang 2006 |
family, two affected siblings |
- |
- |
China |
- |
- |
0 |
- |
- |
PARK |
- |
PARK7 |
PARK7 |
1 |
2 |
The Parkinson's Institute - Birgitt Schuele |