Global Variome shared LOVD
APTX (aprataxin)
LOVD v.3.0 Build 27 [
Current LOVD status
]
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Curator:
Rick van Minkelen
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View all variants affecting transcripts
View unique variants in gene APTX
View all variants in gene APTX
Full data view for gene APTX
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View all individuals with variants in gene APTX
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View all diseases associated with gene APTX
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View available phenotype columns
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View all screenings for gene APTX
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All individuals with variants in gene APTX
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'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
74 entries on 1 page. Showing entries 1 - 74.
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Legend
How to query
Individual ID
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Disease
Phenotype details
Variants
Panel size
Owner
00000006
-
PubMed: Bell 2011
-
-
-
-
-
-
-
-
-
-
-
1
1
Global Variome, with Curator vacancy
00034766
-
-
-
-
-
Germany
-
-
0
-
-
-
-
1
1
Andreas Laner
00034767
-
-
-
-
-
Germany
-
-
0
-
-
EAOH
ataxia with oculomotor apraxia type 1
1
1
Andreas Laner
00208527
-
-
-
F
-
Germany
-
-
0
-
-
-
HP:0002073 (Progressive cerebellar ataxia)
1
1
Andreas Laner
00208921
-
PubMed: Baba 2007
-
-
-
-
-
-
0
-
-
?
moderate cerebellar ataxia, dysarthria, dysmetria, postural tremor, mild bradykinesia, ataxic gait, decomposition of movement in upper and right lower extremities, cognitive deficits, oculomotor dysfunction, motor paresis, sensory disturbance and cerebellar atrophy
1
1
Sergio Piñeiro
00208922
-
PubMed: Tranchant 2003
brother/sister
-
-
-
-
-
0
-
-
EAOH
gait ataxia, mild axial and limb ataxia, dysarthria, areflexia, loss of pallesthesia, cerebellar atrophy, decreased motor conduction in lower limbs, right extensor plantar response, mild upper limb dystonia, moderate ptosis of the left lid, pes cavus,
2
1
Sergio Piñeiro
00208923
-
PubMed: Le Ber 2003
-
-
-
-
-
-
0
-
-
EAOH
cerebellar ataxia, oculomotor apraxia, severe choria, dystonia face + hand, dysexecurive syndrome, abolished tendon reflexes, severe motor deficit, severe distal amyotrophy, decreased superficial sensory, moderate decreased vibration sense, pes cavus, scoliosis
1
1
Sergio Piñeiro
00208924
-
PubMed: Moreira 2001
2-generation family, unaffected parents
-
-
Portugal
Portuguese
-
0
-
-
EAOH
typical AOA1 phenotype + marked dystonia and masklike faces
3
1
Sergio Piñeiro
00208925
-
PubMed: Shimazaki 2002
-
-
-
Japan
Japanese
-
0
-
-
EAOH
-
1
1
Sergio Piñeiro
00208926
-
PubMed: Criscuolo 2004
-
-
-
Italy
Italian
-
0
-
-
EAOH
-
1
1
Sergio Piñeiro
00208927
-
PubMed: Moreira 2001
-
-
-
Japan
Japanese
-
0
-
-
EAOH
ataxia, ophthalmoparesis, nystagmus, mild mental retardation
1
1
Sergio Piñeiro
00208928
-
PubMed: Moreira 2001
-
-
-
Japan
Japanese
-
0
-
-
EAOH
cerebellar ataxia, ocular apraxia, ...(not complete clinical information).
1
1
Sergio Piñeiro
00208929
-
PubMed: Criscuolo 2005
-
-
-
-
-
-
0
-
-
EAOH
-
1
1
Sergio Piñeiro
00208930
-
PubMed: Fogel 2006
-
-
-
-
-
-
0
-
-
?
-
1
1
Sergio Piñeiro
00208931
-
PubMed: Moreira 2001
-
-
-
Japan
Japanese
-
0
-
-
EAOH
-
1
1
Sergio Piñeiro
00208932
-
PubMed: Moreira 2001
-
-
-
Japan
Japanese
-
0
-
-
EAOH
-
1
1
Sergio Piñeiro
00208933
-
PubMed: Moreira 2001
-
-
-
Japan
Japanese
-
0
-
-
EAOH
gait ataxia, ocular apaxia, hyporeflexia, dysarthria, cerebellar atrophy, severe mental retardation (before ataxia onset)
2
1
Sergio Piñeiro
00208934
-
PubMed: Ferrarini 2007
-
-
-
-
-
-
0
-
-
EAOH
-
1
1
Sergio Piñeiro
00208935
-
-
-
-
-
Japan
Japanese
-
0
-
-
EAOH
-
2
1
Sergio Piñeiro
00208936
-
PubMed: Baba 2007
-
-
-
-
-
-
0
-
-
?
cerebellar ataxia, dysarthria, dysmetria, postural tremor, bradykinesia, ataxic gait, decomposition of movement in upper and lower extremities
1
1
Sergio Piñeiro
00208937
-
PubMed: Mosesso 2005
-
-
-
-
-
-
0
-
-
EAOH
-
1
1
Sergio Piñeiro
00208938
-
PubMed: H'mida-Ben Brahim 2011
-
-
-
Lebanon
-
-
0
-
-
EAOH
-
1
1
Sergio Piñeiro
00208939
-
PubMed: Date 2001
-
-
-
Japan
Japanese
-
0
-
-
EAOH
progressive ataxia, absence of tendon reflexes, distal loss of sense of position and vibration, pyramidal weakness of the legs, hypoalbuminemia
2
1
Sergio Piñeiro
00208940
-
PubMed: Le Ber 2003
-
-
-
-
-
-
0
-
-
EAOH
cerebellar ataxia, dysexecurive syndrome, abolished tendon reflexes, severe motor deficit, moderate distal amyotrophy, decreased superficial sensory, moderate decreased vibration sense, scoliosis
2
1
Sergio Piñeiro
00208941
-
PubMed: Le Ber 2003
-
-
-
-
-
-
0
-
-
EAOH
cerebellar ataxia, choria, dystonia hand, dysexecurive syndrome, abolished tendon reflexes, severe motor deficit, moderate distal amyotrophy, decreased superficial sensory, moderate decreased vibration sense
2
1
Sergio Piñeiro
00208942
-
PubMed: Le Ber 2003
-
-
-
-
-
-
0
-
-
EAOH
cerebellar ataxia, oculomotor apraxia, choria, dystonia face + hand, mental retardation, abolished tendon reflexes, severe motor deficit, severe distal amyotrophy, decreased superficial sensory, moderate decreased vibration sense, limb oedema
2
1
Sergio Piñeiro
00208943
-
PubMed: Le Ber 2003
-
-
-
-
-
-
0
-
-
EAOH
cerebellar ataxia, oculomotor apraxia, choria, dystonia face + hand, mental retardation, abolished tendon reflexes, severe motor deficit, severe distal amyotrophy, decreased superficial sensory, moderate decreased vibration sense, limb oedemam pes cavus, scoliosis
2
1
Sergio Piñeiro
00208944
-
PubMed: Moreira 2001
-
-
-
Portugal
Portuguese
-
0
-
-
EAOH
cerebellar ataxia, ocular apraxia, ...(not complete clinical information).
1
1
Sergio Piñeiro
00208945
-
PubMed: Moreira 2001
-
-
-
Portugal
Portuguese
-
0
-
-
EAOH
cerebellar ataxia, ocular apraxia, ...(not complete clinical information).
1
1
Sergio Piñeiro
00208946
-
PubMed: Moreira 2001
-
-
-
Portugal
Portuguese
-
0
-
-
EAOH
cerebellar ataxia, ocular apraxia, ...(not complete clinical information).
1
1
Sergio Piñeiro
00208947
-
PubMed: Moreira 2001
-
-
-
Portugal
Portuguese
-
0
-
-
EAOH
cerebellar ataxia, ocular apraxia, ...(not complete clinical information).
1
1
Sergio Piñeiro
00208948
-
PubMed: Moreira 2001
-
-
-
Portugal
Portuguese
-
0
-
-
EAOH
cerebellar ataxia, ocular apraxia, ...(not complete clinical information).
1
1
Sergio Piñeiro
00208949
-
PubMed: Date 2001
-
-
-
Japan
Japanese
-
0
-
-
EAOH
progressive ataxia, absence of tendon reflexes, distal loss of sense of position and vibration, pyramidal weakness of the legs, hypoalbuminemia
2
1
Sergio Piñeiro
00208950
-
PubMed: Crimella 2011
-
-
-
-
-
-
0
-
-
EAOH
ataxic gait, dysmetria, diffuse distal leg and hand hypotrophy, absence of deep tendon reflexes (DTR), pes , cavus, with intact strength and sensation, dysarthria, difficulties in visual pursuit with ocular , esotropia, flaccid tetraplegia, severe hypotrophy, hypotonia and areflexia. severe axonal neuropathy more severe at the lower limbs. Severe cerebellar atrophy.
1
1
Sergio Piñeiro
00208951
-
PubMed: Castellotti 2011
-
-
-
-
-
-
0
-
-
EAOH
Severe gait limb ataxia. Moderate dysarthria, defects of saccadic initiation and choreoathetosis. Mild distal weakness lower and upper limbs, muscular wasting, cognitive impairment and decreased vibration sense lower limbs. Nystagmus, Babinksi sign and deep tendon reflexes lower limbs absent.
1
1
Sergio Piñeiro
00208952
-
-
-
-
-
-
-
-
0
-
-
EAOH
Moderate gait limb ataxia. Mild dysarthria. Metal retardation and deep tendon reflexes lower limbs absent.
2
1
Sergio Piñeiro
00208953
-
PubMed: Castellotti 2011
-
-
-
-
-
-
0
-
-
EAOH
Severe gait limb ataxia, dysarthria, defects of saccadic initiation and distal weakness lower limbs. Moderate muscular wasting. Mildchoreoathetosis, Mild distal weakness upper limbs, cognitive impairment and decreased vibration sense lower limbs. Nystagmus, deep tendon reflexes lower limbs absent.
2
1
Sergio Piñeiro
00208954
-
PubMed: Castellotti 2011
-
-
-
-
-
-
0
-
-
EAOH
Moderate gait limb ataxia, dysarthria, defects of saccadic initiation and distal weakness lower limbs and decreased vibration sense lower limbs. Mild muscular wasting. Nystagmus and deep tendon reflexes lower limbs absent.
2
1
Sergio Piñeiro
00208955
-
PubMed: Nouri et al 2012
-
-
-
-
-
-
0
-
-
EAOH
-
1
1
Rick van Minkelen
00208956
15365154-Fam1
PubMed: Amouri 2004
family, 5 affected (2F, 3M), unaffacted parents
F;M
-
Tunisia
-
-
0
-
-
EAOH
ataxic gait, cerebellar ataxia, oculomotor apraxia, distal sensory disturbance, cerebellar atrophy, areflexia, distal muscle wasting, decreased motor nerve action potential, motor nerve conduction velocities and sensory action potentials
1
5
Rick van Minkelen
00208957
26285866-Pat23263
PubMed: van Minkelen 2015
-
-
-
-
-
-
0
-
-
EAOH
-
1
1
Rick van Minkelen
00208958
-
-
-
-
-
-
-
-
0
-
-
EAOH
-
1
1
Rick van Minkelen
00208959
-
-
-
-
-
-
-
-
0
-
-
EAOH
-
1
1
Rick van Minkelen
00208960
-
-
-
-
-
-
-
-
0
-
-
EAOH
-
1
1
Rick van Minkelen
00208961
-
-
-
-
-
-
-
-
0
-
-
EAOH
oculomotor apraxia, nystagmus (no further details given by physician)
1
1
Rick van Minkelen
00208962
-
-
-
-
-
-
-
-
0
-
-
EAOH
motoric and axonal sensible polyneuropathy, very mild dysarthria, very mild cerebellar ataxia
1
1
Rick van Minkelen
00208963
-
van Minkelen et al. In preparation
-
-
-
-
-
-
0
-
-
EAOH
cerebellar ataxia (not further details given by physician)
1
1
Rick van Minkelen
00208964
26285866-Pat4305
PubMed: van Minkelen 2015
-
-
-
-
-
-
0
-
-
EAOH
psychomotor retardation, epilepsy, clinically AOA1 (no details provided by requesting physician).
1
1
Rick van Minkelen
00208965
26285866-Pat23006
PubMed: Avan Minkelen 2015
-
-
-
-
-
-
0
-
-
EAOH
cerebellar ataxia, oculomotor apraxia (no further details given by physician)
1
1
Rick van Minkelen
00208966
-
van Minkelen et al. In preparation
-
-
-
-
-
-
0
-
-
EAOH
cerebellar ataxia (no further details given by physician)
1
1
Rick van Minkelen
00208967
26285866-Pat27320
PubMed: van Minkelen 2015
-
-
-
-
-
-
0
-
-
EAOH
no details given by physician
2
1
Rick van Minkelen
00208968
-
-
-
-
-
-
-
-
0
-
-
EAOH
mild AOA1 phenotype (no details provided by requesting physician)
1
1
Rick van Minkelen
00208969
-
-
-
-
-
-
-
-
0
-
-
EAOH
unknown ataxia (no further details given by physician),
1
1
Rick van Minkelen
00208970
-
PubMed: Mosesso 2005
-
-
-
-
-
-
0
-
-
EAOH
no details provided by requesting physician
1
1
Rick van Minkelen
00208971
26285866-Pat27908
PubMed: Avan Minkelen 2015
-
-
-
-
-
-
0
-
-
EAOH
cerebellar ataxia, polyneuropathy, dysarthria, nystagmus, gait ataxia, mild cerebellar atrophy
2
1
Rick van Minkelen
00208972
-
-
-
-
-
-
-
-
0
-
-
EAOH
cerebellar ataxia, cerebellar dysarthria, oculomotor apraxia, legs parese iliopsoas 4+/4+, areflexia, Q10 deficiency, polyneuropathy,
1
1
Rick van Minkelen
00208973
-
PubMed: Le Ber 2003
-
-
-
-
-
-
0
-
-
EAOH
no details provided by requesting physician
1
1
Rick van Minkelen
00208974
26285866-Pat1
PubMed: van Minkelen 2015
2-generation family, 1 affected, unaffected heterozygous carrier parents
M
no
Morocco
-
-
0
-
-
EAOH
cerebellar ataxia, cerebellar atrophy, oculomotor apraxia, ataxic gait, dysmetria, distal limb dystonia, sensitive axonal polyneuropathy, bilateral spontaneous Babinski and rotulian and achillean hyporeflexia
1
1
Rick van Minkelen
00208975
26285866-Pat2
PubMed: Yoon 2009
,
PubMed: van Minkelen 2015
2-generation family, 1affected, unaffected parents
F
yes
Pakistan
-
-
0
-
-
EAOH
oculomotor apraxia, severe dysarthria, dysmetria, bradykinesia, cerebellar atrophy, reduced deep tendon reflexes, widespread cognitive impairment
1
1
Rick van Minkelen
00208976
26285866-Pat18647
PubMed: Avan Minkelen 2015
-
-
-
-
-
-
0
-
-
EAOH
mild scoliosis, nystagmus, mild tremor, gait ataxia, areflexia
1
1
Rick van Minkelen
00208977
26285866-Pat53383
PubMed: van Minkelen 2015
-
-
-
-
-
-
0
-
-
EAOH
-
1
1
Rick van Minkelen
00208978
26285866-Pat62385
PubMed: van Minkelen 2015
-
-
-
-
-
-
0
-
-
EAOH
no details provided by requesting physician
1
1
Rick van Minkelen
00208979
26285866-Pat61291
PubMed: van Minkelen 2015
-
-
-
-
-
-
0
-
-
EAOH
no details provided by requesting physician
1
1
Rick van Minkelen
00208980
15365154-Fam2
PubMed: Amouri 2004
family, 4 affected (2F, 2M), unaffected parents
F;M
-
Tunisia
-
-
0
-
-
EAOH
see paper; ...
1
1
Johan den Dunnen
00208981
15365154-Fam3
PubMed: Amouri 2004
family, 4 affected (2F, 2M), unaffected parents
F;M
-
Tunisia
-
-
0
-
-
EAOH
see paper; ...
1
4
Johan den Dunnen
00295504
-
-
-
M
-
-
-
-
0
-
-
?
Cerebellar atrophy (HP:0001272); Gait ataxia (HP:0002066)
1
1
Andreas Laner
00317985
PKMR36
PubMed: Riazuddin 2017
-
-
yes
Pakistan
-
-
0
-
-
ID
V:14: Moderate hypotonia, autism, speech delay, small and squint eyes. V:13: mild ID, dwarf, elongated hands, flat bridge of nose. VI:1: ID, epilepsy
1
1
Johan den Dunnen
00329226
-
-
-
M
-
-
-
-
0
-
-
?
Ataxia (HP:0001251); Cognitive impairment (HP:0100543); Sensory ataxia (HP:0010871)
1
1
IMGAG
00374193
S-3687
PubMed: Ganapathy 2019
-
-
-
India
-
-
0
-
-
?
Delayed milestones, gait difficulty and swaying while walking by 6 years of age, foot deformity and squint by 14 years of age and speech difficulty by 16 years of age
1
1
Johan den Dunnen
00374194
S-5910
PubMed: Ganapathy 2019
-
-
-
India
-
-
0
-
-
?
Generalised hypotonia, poor clarity in speech and ataxia. MRI of brain showed cerebellar and brainstem atrophy
1
1
Johan den Dunnen
00374195
S-3919
PubMed: Ganapathy 2019
-
-
-
India
-
-
0
-
-
?
Ataxia, oculomotor apraxia and abnormal gait
1
1
Johan den Dunnen
00374196
S-753
PubMed: Ganapathy 2019
-
-
-
India
-
-
0
-
-
?
Cerebellar ataxia with oculomotor apraxia
1
1
Johan den Dunnen
00397578
FamPat1
-
family, 2 affected brothers, unaffected heterozygous carrier mother, 3 sisters and brother
M
yes
Egypt
Egyptian
-
0
-
-
AOA
Developmental history: The patient is a product of normal pregnancy and delivery (dizygotic twin but the other is twin is completely normal). Normal developmental milestones Family history: History of consanguineous marriage (cousins) The patient has one brother with similar illness started at the age of 8. His brother developed incoordination during walking and frequent fall on the ground. He had nystagmus (end-gaze). History of present illness: The patient developed an insidious illness in the form of progressive incoordination. He dysarthria (staccato speech), nystagmus and change in the foot shape in the form of flat foot. No history suggestive of peripheral nerve affection, no sensory system affection, no sphincteric disturbance, no cognitive deterioration. No cranial nerve involvement. Normal power. Neurological examination: Limb girdle ataxia Nystagmus Staccato speech Normal sensation Flat foot Wide base staggering gaze Normal planter response, Developmental history: The patient is a product of normal pregnancy and delivery (dizygotic twin but the other is twin is completely normal). Normal developmental milestones Family history: History of consanguineous marriage (cousins) The patient has one brother: 9 years old), with similar illness started at the age of 8. His brother developed incoordination during walking and frequent fall on the ground. He had nystagmus (end-gaze). History of present illness: The patient developed an insidious illness in the form of progressive incoordination. He dysarthria (staccato speech), nystagmus and change in the foot shape in the form of flat foot. No history suggestive of peripheral nerve affection, no sensory system affection, no sphincteric disturbance, no cognitive deterioration. No cranial nerve involvement. Normal power. Neurological examination: Limb girdle ataxia Nystagmus Staccato speech Normal sensation Flat foot Wide base staggering gaze Normal planter response
1
2
Sherifa Ahmed Hamed
00404124
-
-
-
M
yes
Egypt
-
-
-
-
-
AOA
18-y male with progressive ataxia and abnormal ocular eye movement.
1
3
Sherifa Ahmed Hamed
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