Disease #05355 (spastic ataxia (ataxia, spastic))

Official abbreviation	spastic ataxia
Name	ataxia, spastic
OMIM ID	-
Inheritance	-
Individuals reported having this disease	95
Phenotype entries for this disease	95
Associated with 1 gene	SACS
Associated tissues	-
Disease features	-
Remarks	-
Date created	2017-12-21 19:09:00 +01:00 (CET)
Date last edited	N/A

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

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

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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95 entries on 1 page. Showing entries 1 - 95.

Legend

How to query

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
00144686	Pt 2-MPG	PubMed: Terracciano 2008	-	M	no	Italy	-	-	-	-	-	spastic ataxia	hearing loss	SACS	SACS	2	1	Bernard Brais
00144687	Pt 1-LF	PubMed: Terracciano 2008	-	F	no	Italy	-	-	-	-	-	spastic ataxia	hearing loss	SACS	SACS	2	1	Bernard Brais
00144692	Pt II-1	PubMed: Pyle 2013	-	M	no	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144693	Pt II-2	PubMed: Pyle 2013	-	-	no	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144694	Pt6	PubMed: Romano 2013	-	?	?	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144695	1	PubMed: McElroy 2013	-	F	?	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	1	Bernard Brais
00144700	Pt1	PubMed: Haga 2012	-	M	no	Japan	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144701	8	PubMed: Shimazaki 2013	-	M	?	Japan	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144715	Pt4	PubMed: Romano 2013	-	?	?	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	1	Bernard Brais
00144716	P624	PubMed: Prodi 2013	-	-	?	Italy	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144717	P625	PubMed: Prodi 2013	-	-	?	Italy	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144718	Pt3	PubMed: Gazulla 2011	-	-	no	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144719	Pt4	PubMed: Gazulla 2011	-	-	no	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144728	S1-II:1	PubMed: Chen 2013	-	F	?	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144729	S1-II:2	PubMed: Chen 2013	-	M	?	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144730	#10	PubMed: Synofzik 2013	-	M	yes	Turkey	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	1	Bernard Brais
00144731	#11	PubMed: Synofzik 2013	-	M	no	Germany	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144732	Case 1	PubMed: Romano 2013	-	F	?	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144733	Pt8	PubMed: Romano 2013	-	?	?	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144734	Patient E	PubMed: Yu-Wai-Man 2014	-	F	?	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144736	2	PubMed: Anheim 2008	-	?	no	France	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144737	#6	PubMed: Synofzik 2013	-	M	no	Macedonia	-	-	-	-	-	spastic ataxia	-	SACS	SACS	3	1	Bernard Brais
00144739	Pt2	PubMed: Gazulla 2011	-	-	no	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144741	II-1 (case 1)	PubMed: Pyle 2012	-	M	no	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144742	II-2 (case 2)	PubMed: Pyle 2012	-	F	no	-	-	-	-	-	-	spastic ataxia	histology FP	SACS	SACS	2	1	Bernard Brais
00144745	#2	PubMed: Synofzik 2013	-	F	no	Germany	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144749	Pt5	PubMed: Romano 2013	-	?	?	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144750	#5 index	PubMed: Synofzik 2013	-	F	no	Germany	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144751	#5 sister	PubMed: Synofzik 2013	-	F	no	Germany	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144752	A530	PubMed: Prodi 2013	-	-	?	Italy	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144753	Pt tg3	-	-	F	?	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	3	1	Bernard Brais
00144754	Pt tg4	-	-	F	?	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	3	1	Bernard Brais
00144757	Pt5	PubMed: Gazulla 2011	-	-	yes	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	1	Bernard Brais
00144759	pt1	-	-	?	?	Australia	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144764	7	PubMed: Shimazaki 2013	-	M	?	Japan	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144765	#3 index	PubMed: Synofzik 2013	-	M	no	Greece	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144766	#3 sister	PubMed: Synofzik 2013	-	F	no	Greece	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144768	pt1	PubMed: Leavitt 2014	-	M	?	-	Italian and Irish descent	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144773	Pt1	PubMed: Grieco 2004	-	-	no	Italy	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144774	Case 2	PubMed: Masciullo 2013	-	F	?	Italy	-	-	-	-	-	spastic ataxia	-	SACS	SACS	3	1	Bernard Brais
00144775	Case 1	PubMed: Masciullo 2013	case 1 in Masciullo 2013 is described as Pt1 in Masciullo 2012, but mutations differ.	M	?	Italy	-	-	-	-	-	spastic ataxia	-	SACS	SACS	3	1	Bernard Brais
00144778	Pt4_F/34	PubMed: Vingolo 2011	-	F	no	Italy	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144779	Pt5_M/28	PubMed: Vingolo 2011	-	M	no	Italy	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144780	Pt1	PubMed: Romano 2013	-	?	?	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144782	Pt2	-	-	?	?	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144790	Pt3	PubMed: Romano 2013	-	?	?	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144793	#9	PubMed: Synofzik 2013	-	M	no	Germany	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144797	1	PubMed: Stevens 2013	-	M	?	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	3	1	Bernard Brais
00144798	16198375-Pat1	PubMed: Yamamoto 2005	-	-	?	Japan	-	-	-	-	-	spastic ataxia	early onset	SACS	SACS	2	1	Bernard Brais
00144799	#7	PubMed: Synofzik 2013	-	F	no	Germany	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144801	Pt7	PubMed: Romano 2013	-	?	?	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144802	PPS617	PubMed: Vingolo 2011	-	-	?	Italy	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144806	SACS_25	PubMed: Shimazaki 2007	-	-	?	Japan	-	-	-	-	-	spastic ataxia	no leg spasticity	SACS	SACS	1	1	Bernard Brais
00144808	Case 2	PubMed: Desserre 2011	-	M	?	France	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	1	Bernard Brais
00144813	Pt19	-	-	F	?	Canada	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144815	Pt1	PubMed: Tzoulis 2013	-	M	?	Norway	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144816	Pt2	PubMed: Tzoulis 2013	-	F	?	Norway	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144817	Pt3	PubMed: Tzoulis 2013	-	F	?	Norway	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144819	P1468	PubMed: Prodi 2013	-	-	?	Italy	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	1	Bernard Brais
00144820	#8	PubMed: Synofzik 2013	-	M	no	Germany	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144823	Pt tg1	-	-	M	?	Canada	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144824	Pt tg2	-	-	M	?	Canada	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144828	Pt1	PubMed: Garcia 2008	-	M	yes	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	1	Bernard Brais
00144829	Pt2	PubMed: Garcia 2008	-	F	yes	Spain	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	1	Bernard Brais
00144830	Case 1	PubMed: Desserre 2011	-	F	?	France	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144838	#1 index	PubMed: Synofzik 2013	-	F	yes	Turkey	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	1	Bernard Brais
00144839	#1 sister	PubMed: Synofzik 2013	-	F	yes	Turkey	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	1	Bernard Brais
00144840	Pt	PubMed: Thiffault 2012	-	M	?	Canada	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	1	Bernard Brais
00144842	3	PubMed: Shimazaki 2013	-	M	?	Japan	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	1	Bernard Brais
00144848	II-3	PubMed: Gregianin 2013	-	M	yes	Italy	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	1	Bernard Brais
00144849	II-4	PubMed: Gregianin 2013	-	M	yes	Italy	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	1	Bernard Brais
00144850	?	PubMed: Masciullo 2008	-	M	?	Italy	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	1	Bernard Brais
00144852	Pt2	PubMed: Baets 2010	-	-	no	Italy	-	-	-	-	-	spastic ataxia	-	SACS	SACS	2	1	Bernard Brais
00144854	Pt VII:5	PubMed: Bouhlal 2008	-	M	?	Tunisia	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	1	Bernard Brais
00144855	#4 index	PubMed: Synofzik 2013	-	M	yes	Turkey	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	1	Bernard Brais
00144856	#4 brother	PubMed: Synofzik 2013	-	M	yes	Turkey	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	1	Bernard Brais
00144857	I-3	PubMed: Liew 2013	-	F	?	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	1	Bernard Brais
00144866	Fam4/pt1 to 4	PubMed: Brahim 2011	-	-	?	Algeria	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	4	Bernard Brais
00144869	Case 3	PubMed: Mignarri 2014	-	M	?	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	1	Bernard Brais
00144870	Case 4	PubMed: Mignarri 2014	-	F	?	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	1	Bernard Brais
00144872	Fam1/Pt1to4	PubMed: Brahim 2011	-	-	?	Tunisia	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	4	Bernard Brais
00144873	IV:2	PubMed: Bouhlal 2009	-	F	?	Tunisia	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	1	Bernard Brais
00144874	V:1	PubMed: Bouhlal 2009	-	M	yes	Tunisia	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	1	Bernard Brais
00144875	V:2	PubMed: Bouhlal 2009	-	M	yes	Tunisia	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	1	Bernard Brais
00144877	P1038	PubMed: Prodi 2013	-	-	?	Italy	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	1	Bernard Brais
00144881	PtIV:2	PubMed: Bouhlal 2011	-	M	?	Tunisia	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	1	Bernard Brais
00144882	Pt1	PubMed: Gazulla 2011	-	-	no	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	1	Bernard Brais
00144883	Case 2	PubMed: Gazulla 2011	-	M	?	-	-	-	-	-	-	spastic ataxia	-	SACS	SACS	1	1	Bernard Brais
00146422	-	Sferra A. et al, 2018	-	M	no	Italy	-	-	-	-	-	spastic ataxia	progressive spastic ataxia and sensory motor peripheral neuropathy resembling a sacsinopathy	TUBB2A	TUBB2A	1	1	Fabiana Fattori
00168054	0000178601	PubMed: Gauthier 2018	-	M	-	Canada	French Canadian	31y	-	-	-	spastic ataxia	Gait instability, chorea, dysarthria	-	VPS13D	2	2	Inge Meijer
00168060	LUB1.1	PubMed: Seong 2018	-	F	-	Germany	-	35y	-	-	-	spastic ataxia	Saccadic pursuit, UL & LL ataxia , LL spasticity, Mild executive dysfunction	-	VPS13D	2	2	Inge Meijer
00170838	LUB1.2	PubMed: Seong 2018	-	F	-	Germany	-	29y	-	-	-	spastic ataxia	Gait and speech difficulties, Saccadic pursuit, UL & LL ataxia, LL spasticity, wheelchair, Normal cognitive state, Gait instability, chorea, dysarthria, Mild Intellectual Disability, Dystonia	-	VPS13D	2	1	Inge Meijer
00170842	0000178602	PubMed: Gauthier 2018	-	M	-	Canada	French Canadian	33y	-	-	-	spastic ataxia	Gait instability, Mild Intellectual Disability	-	VPS13D	2	1	Inge Meijer
00174860	NIJ 1	PubMed: Seong E 2018	-	M	-	Netherlands	-	43y	-	-	-	spastic ataxia	Delayed walking, spastic gait	-	VPS13D	2	1	Inge Meijer
00176992	NIJ 3	PubMed: Seong E	-	M	-	Netherlands	-	37y	-	-	-	spastic ataxia	Delayed walking, abnormal gait, Cervical Dystonia	-	VPS13D	2	1	Inge Meijer

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Global Variome shared LOVD

ARHGEF6 (Rac/Cdc42 guanine nucleotide exchange fact...)