All individuals with variants in gene APTX

74 entries on 1 page. Showing entries 1 - 74.
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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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