Disease #04167 (SCA (ataxia, spinocerebellar (SCA)))

Official abbreviation	SCA
Name	ataxia, spinocerebellar (SCA)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	194
Phenotype entries for this disease	189
Associated with 3 genes	FGF14, NOP56, NPTX1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-12-24 11:54:32 +01:00 (CET)
Date last edited	2015-12-08 23:59:30 +01:00 (CET)

Individuals

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:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

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. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, 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.

How to query this table

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Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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194 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

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
00027179	-	PubMed: Di Gregorio 2014	4-generation family, 11 affecteds (5F, 6M)	-	no	Italy	-	-	-	-	-	SCA	see paper; pure form of cerebellar ataxia	ELOVL5	ELOVL5, PRSS16, PTK7	3	11	Johan den Dunnen
00027180	-	PubMed: Di Gregorio 2014	4 generation family, 3 affecteds (2F, M)	-	no	France	-	-	-	-	-	SCA	see paper	ELOVL5	ELOVL5	1	3	Johan den Dunnen
00027181	-	PubMed: Di Gregorio 2014	4-generation family, 7 affecteds (4F, 3M)	-	no	Italy	-	-	-	-	-	SCA	see paper	ELOVL5	ELOVL5	1	7	Johan den Dunnen
00027182	-	PubMed: Di Gregorio 2014	4-generation family, 17 affecteds (8F, 9M)	-	no	Italy	-	-	-	-	-	SCA	see paper	ELOVL5	ELOVL5	1	17	Johan den Dunnen
00027183	-	PubMed: Di Gregorio 2014	456 index individuals (Europe)	?	?	-	-	-	-	-	-	SCA	-	ELOVL5	ELOVL5	2	1	Johan den Dunnen
00111198	-	PubMed: Di Bella 2010	-	-	-	-	-	-	-	-	-	SCA	possibly autosomal recessive	AFG3L2	AFG3L2	1	1	Johan den Dunnen
00148466	24935856-FamPatIII6	PubMed: Leonardi 2014	4-generation family, 7 affecteds (4F, 3M)	F	-	Peru	-	-	-	-	-	SCA	-	ATXN10	ATXN10	1	7	Johan den Dunnen
00148467	24935856-FamPatIII2	PubMed: Leonardi 2014	half-brother of III6	M	no	Peru	Amerindian	-	-	-	-	SCA	-	ATXN10	ATXN10	1	1	Johan den Dunnen
00148524	10330346-FamVNPatiii2	PubMed: Giunti 1999	3-generation family, 1 affected	?	-	France	-	-	-	-	-	SCA	-	ATXN7	ATXN7	2	1	Johan den Dunnen
00148525	10330346-FamWIPatII1	PubMed: Giunti 1999	2-generation family, 3 affecteds	-	-	France	-	-	-	-	-	SCA	-	ATXN7	ATXN7	2	3	Johan den Dunnen
00148526	10330346-FamPTPatIII1	PubMed: Giunti 1999	3-generation family, affected mother/child	-	-	France	-	-	-	-	-	SCA	-	ATXN7	ATXN7	2	2	Johan den Dunnen
00148527	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00148528	09259274-PatHom	PubMed: Matsuyama 1997	homozygous case	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00148529	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00148545	8824876-con	PubMed: Limprasert 1996	-	-	-	Thailand	-	-	-	-	-	SCA	-	ATXN3	ATXN3	2	4	Johan den Dunnen
00165115	28686858-FamM1	PubMed: Seixas 2017	4-generation family, 18 affecteds	F;M	-	Portugal	-	-	-	-	-	SCA	dysarthria (HP:0001260), ataxia (HP:0001251 )	DAB1	DAB1	2	18	Johan den Dunnen
00208463	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208464	09259274-Pat	PubMed: Matsuyama 1997	homozygous case	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208465	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208466	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208467	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208468	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208469	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208470	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208471	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208472	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208473	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208474	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208475	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208476	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208477	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208478	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208479	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208480	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	2	Johan den Dunnen
00208481	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208482	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208483	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208484	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208485	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208486	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208487	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208488	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208489	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208490	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208491	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208492	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208493	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208494	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208495	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208496	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208497	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208498	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208499	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208500	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208501	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208502	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208503	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208504	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208505	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208506	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208507	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208508	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208509	09259274-Pat	PubMed: Matsuyama 1997	58 SCA cases	-	-	Japan	-	-	-	-	-	SCA	-	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208604	09702684-FamPatIII7	PubMed: Takiyama 1998	5-generation family, 13 affected (5F, 8M)	F	no	Japan	-	-	-	-	-	SCA	severe ataxia, mild dysarthria, mild down-beat nystagmus, diabetes mellitus	CACNA1A	CACNA1A	2	13	Johan den Dunnen
00208606	09702684-FamPatIV1	PubMed: Takiyama 1998	PatIV1	M	-	Japan	-	-	-	-	-	SCA	moderate ataxia, mild dysarthria, moderate down-beat nystagmus, diabetes mellitus; phenotype not more severe compared to heterozygous cases	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208607	09702684-FamPatIII8	PubMed: Takiyama 1998	-	M	no	Japan	-	-	-	-	-	SCA	severe ataxia, mild dysarthria, mild down-beat nystagmus, diabetes mellitus	CACNA1A	CACNA1A	2	1	Johan den Dunnen
00208608	09702684-FamPatIII6	PubMed: Takiyama 1998	-	M	no	Japan	-	-	-	-	-	SCA	mild ataxia, no dysarthria, noe down-beat nystagmus	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00208609	09702684-FamPatIV5	PubMed: Takiyama 1998	-	M	yes	Japan	-	-	-	-	-	SCA	mild ataxia, no dysarthria, mild down-beat nystagmus; phenotype not more severe compared to heterozygous cases	CACNA1A	CACNA1A	1	1	Johan den Dunnen
00234051	FamCA-1Pat33	PubMed: Del-Favero 1998	4-generation family, 20 affected (10F, 10M)	F;M	no	Belgium	-	-	-	-	-	SCA	see paper; ...	ATXN7	ATXN7	2	20	Johan den Dunnen
00249748	Fam1PatI	PubMed: Kawaguchi 1994	3-generation family, 3 affected (2F, M)	F	-	Japan	-	-	-	-	-	SCA	-	ATXN3	ATXN3	2	3	Johan den Dunnen
00249749	Fam1PatII	PubMed: Kawaguchi 1994	-	F	-	Japan	-	-	-	-	-	SCA	-	ATXN3	ATXN3	2	1	Johan den Dunnen
00249750	Fam1PatIII	PubMed: Kawaguchi 1994	-	M	-	Japan	-	-	-	-	-	SCA	-	ATXN3	ATXN3	2	1	Johan den Dunnen
00249751	PatIV	PubMed: Kawaguchi 1994	-	F	-	Japan	-	-	-	-	-	SCA	-	ATXN3	ATXN3	2	1	Johan den Dunnen
00249752	PatV	PubMed: Kawaguchi 1994	-	F	-	Japan	-	-	-	-	-	SCA	-	ATXN3	ATXN3	2	1	Johan den Dunnen
00249753	PatVI	PubMed: Kawaguchi 1994	-	F	-	Japan	-	-	-	-	-	SCA	-	ATXN3	ATXN3	2	1	Johan den Dunnen
00249754	PatVII	PubMed: Kawaguchi 1994	-	F	-	Japan	-	-	-	-	-	SCA	-	ATXN3	ATXN3	2	1	Johan den Dunnen
00249755	PatVIII	PubMed: Kawaguchi 1994	-	F	-	Japan	-	-	-	-	-	SCA	-	ATXN3	ATXN3	2	1	Johan den Dunnen
00249756	PatIX	PubMed: Kawaguchi 1994	-	M	-	Japan	-	-	-	-	-	SCA	-	ATXN3	ATXN3	2	1	Johan den Dunnen
00249757	PatX	PubMed: Kawaguchi 1994	-	M	-	Japan	-	-	-	-	-	SCA	-	ATXN3	ATXN3	2	1	Johan den Dunnen
00249758	PatXI	PubMed: Kawaguchi 1994	-	F	-	Japan	-	-	-	-	-	SCA	-	ATXN3	ATXN3	2	1	Johan den Dunnen
00249759	PatXII	PubMed: Kawaguchi 1994	-	M	-	Japan	-	-	-	-	-	SCA	-	ATXN3	ATXN3	2	1	Johan den Dunnen
00262139	-	PubMed: David 1997	SCA patient	-	-	-	France	-	-	-	-	SCA	-	ATXN7	ATXN7	1	1	Johan den Dunnen
00262140	-	PubMed: David 1997	SCA patient	-	-	-	France	-	-	-	-	SCA	-	ATXN7	ATXN7	1	1	Johan den Dunnen
00262141	-	PubMed: David 1997	SCA patient	-	-	-	France	-	-	-	-	SCA	-	ATXN7	ATXN7	1	1	Johan den Dunnen
00262142	-	PubMed: David 1997	SCA patient	-	-	-	France	-	-	-	-	SCA	-	ATXN7	ATXN7	1	1	Johan den Dunnen
00262143	-	PubMed: David 1997	SCA patient	-	-	-	France	-	-	-	-	SCA	-	ATXN7	ATXN7	1	1	Johan den Dunnen
00262144	-	PubMed: David 1997	SCA patient	-	-	-	France	-	-	-	-	SCA	-	ATXN7	ATXN7	1	1	Johan den Dunnen
00262145	-	PubMed: David 1997	SCA patient	-	-	-	France	-	-	-	-	SCA	-	ATXN7	ATXN7	1	1	Johan den Dunnen
00262146	-	PubMed: David 1997	SCA patient	-	-	-	France	-	-	-	-	SCA	-	ATXN7	ATXN7	1	1	Johan den Dunnen
00262147	-	PubMed: David 1997	SCA patient	-	-	-	France	-	-	-	-	SCA	-	ATXN7	ATXN7	1	1	Johan den Dunnen
00262148	-	PubMed: David 1997	SCA patient	-	-	-	France	-	-	-	-	SCA	-	ATXN7	ATXN7	1	1	Johan den Dunnen
00262149	-	PubMed: David 1997	SCA patient	-	-	-	France	-	-	-	-	SCA	-	ATXN7	ATXN7	1	1	Johan den Dunnen
00262150	-	PubMed: David 1997	SCA patient	-	-	-	France	-	-	-	-	SCA	-	ATXN7	ATXN7	1	1	Johan den Dunnen
00262151	-	PubMed: David 1997	SCA patient	-	-	-	France	-	-	-	-	SCA	-	ATXN7	ATXN7	1	1	Johan den Dunnen
00262152	-	PubMed: David 1997	SCA patient	-	-	-	France	-	-	-	-	SCA	-	ATXN7	ATXN7	1	1	Johan den Dunnen
00262153	-	PubMed: David 1997	SCA patient	-	-	-	France	-	-	-	-	SCA	-	ATXN7	ATXN7	1	1	Johan den Dunnen
00262154	-	PubMed: David 1997	SCA patient	-	-	-	France	-	-	-	-	SCA	-	ATXN7	ATXN7	1	1	Johan den Dunnen
00262155	-	PubMed: David 1997	SCA patient	-	-	-	France	-	-	-	-	SCA	-	ATXN7	ATXN7	1	1	Johan den Dunnen
00331711	172743	-	-	M	?	Germany	-	-	-	-	-	SCA	Gait ataxia at age 50y, negative family history regarding ataxia	TGM6, TTBK2	TGM6, TTBK2	2	1	Andreas Laner
00404122	-	-	-	M	-	Egypt	-	-	-	-	-	SCA	20-y male with progressive ataxia, abnormal ocular eye movement, cognitive impairment distal lower limb weakness and peripheral neuropathy.	SETX	SETX	1	3	Sherifa Ahmed Hamed

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Global Variome shared LOVD