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46 patient data entries in database for clusters A467T and A467T.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
522A467T2
A467T2
Alpers, Encephalopathy, liver failure.
-liver failure
-encephalopathy
-Alpers syndrome
-developmental delay
-epilepsy
infantile
1n/an/aStewart et al, 2009;

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289A467T2
A467T2
Developemental delay, status epilepticus onset, valproic acid therapy 2 weeks, epilepsia partialis continua, mtDNA depletion in liver
-status epilepticus
-epilepsia partialis
infantile
2.676n/aWolf et al, 2009;

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697A467T2
A467T2
During his early childhood, he had frequent “acetonaemic vomiting” and stunted growth. At age 7 years, he developed EPC and sensory ataxia. epilepsia partialis continua, followed by progressive ataxia Reduced density of the white matter. behavioural problems. Elevated blood lactate. myoclonic seizures. sensory ataxia, absent deep tendon reflexes, cerebellar dysfunction, nystagmus, peripheral vision defect, and a pale optic disk. mild atrophy of the frontal,parietal and visual cortices, focal hyperlucencies of the frontal and occipital cortex, as well as of the thalamus bilaterally, and cerebellar atrophy. COX-negative fibres. partial and generalized seizures as well as myoclonic fits.
-myoclonic seizures
-epilepsia partialis
-movement disorder (ataxia)
-cerebellar atrophy
-sensory ataxia
-cox-negative
-vomiting
-nystagmus
childhood
71819Simonati et al, 2003a;

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423A467T2
A467T2
Presented with status epilepticus, cerebellar ataxia and myoclonus, epilepsia partialis continua, Transient liver dysfunction with sodium valproate treatment at age 15, refractory focal motor status at age 17,
-status epilepticus
-myoclonic seizures
-epilepsia partialis
-cerebellar ataxia
-movement disorder (ataxia)
-liver dysfunction
childhood
5n/a17Boes et al, 2009;

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546A467T2
A467T2
Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO
-epilepsy
-movement disorder (ataxia)
-PEO
-stroke
childhood
8n/a47Tzoulis et al, 2014;

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579A467T2
A467T2
early-onset ataxia, epilepsy, sensory neuropathy.
-epilepsy
-movement disorder (ataxia)
childhood
12.5n/an/aSchicks et al, 2010;

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589A467T2
A467T2
This man developed epilepsy at age 5. At age 16 he developed unsteadiness and was euphoric. He had a right-sided divergent squint and difficulties on upgaze when the right eye would drift outward. Eye movements were otherwise full. There were horizontal nystagmus, absent tendon reflexes, and loss of proprioception distally in the legs. His gait was ataxic. Positive Romberg sign. At age 20 mild dysarthria was noted. Subsequently, he developed finger dysmetria, dysdiadochokinesis and myoclonus involving his arms, diarrhea, weight loss and cachexia, and ophthalmoplegia. Between the ages of 35 and 54 years he had infrequent seizures, but at age 55 he developed treatment-resistant status epilepticus and died. Cognitive dysfunction, axonal neuropathy, status epilepticus.
-status epilepticus
-myoclonic seizures
-epilepsy
-demyelinating neuropathy
-ophthalmoplegia
-diarrhea
-dysarthria
-nystagmus
childhood
5n/a55Winterthun et al, 2005;

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591A467T2
A467T2
Headache, tremor. At age 20, he developed unsteadiness and dizziness. Examination showed upper limb tremor and myoclonus, and titubation. At age 31 limitation of horizontal eye movements was recorded; muscle biopsy was reported as showing no ragged red fibers. Subsequently, he developed limb and truncal ataxia, worsening ophthalmoplegia, pain in his extremities with glove and stocking sensory loss, particularly affecting proprioception, and sudden falls with altered consciousness that responded to anticonvulsant treatment. Sensory ataxia. axonal neuropathy, ophthalmoplegia, demyelination neuropathy, cognitive dysfunction, focal occipital epilepsy.
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-sensory ataxia
-demyelinating neuropathy
-ragged red fibers
-ophthalmoplegia
-headache/ migraine
-tremor
childhood
1043n/aWinterthun et al, 2005;

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320A467T2
A467T2
Myoclonic Seizures, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, Abnormal Liver Enzymes, Alpers
-myoclonic seizures
-epilepsia partialis
-developmental delay
-Alpers syndrome
-encephalopathy
childhood
5n/a10.83Hunter et al, 2011;

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315A467T2
A467T2
Hospitalized at age 7 for headache, fever, lethargy, and seizures, Elevated CSF protein, occipital stroke, visual field deficit, peripheral neuropathy, migraine, epilepsy, The patient began valproate therapy at age 11 and suffered hepatic encephalopathy which resolved after carnitine therapy.
-epilepsy
-peripheral neuropathy
-stroke
-headache/ migraine
-encephalopathy
childhood
728n/aBrinjikji et al, 2011;

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290A467T2
A467T2
status epilepticus onset, valproic acid therapy 12 weeks, liver failure,
-status epilepticus
-liver failure
childhood
9.2511n/aWolf et al, 2009;

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258A467T2
A467T2
Refractory seizures, psychomotor regression, liver disease, presented with epilepsia partialis continua, Transient lactic acidemia
-lactic acidosis
-intractable seizure
-epilepsia partialis
-liver dysfunction
childhood
8.5n/a9Nguyen et al, 2005;

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662A467T2
A467T2
Alpers. Speech and motor delay were noted at the age of two years. At three years she developed epilepsy and six months later experienced migrainous attacks associated with vomiting, vertigo and transient left-sided weakness. At the age of five years she developed status epilepticus. A month later she was noted to have nystagmus, hypotonia of the lower limbs and absent knee jerks. Liver dysfunction.
-status epilepticus
-epilepsy
-liver dysfunction
-hypotonic
-vomiting
-Alpers syndrome
-nystagmus
-encephalopathy
-developmental delay
childhood
3n/a5.5Rajakulendran et al, 2016;

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663A467T2
A467T2
MEMSA. sensory neuropathy affecting legs. normal development until the age of 6 years when she presented with an encephalopathic illness consisting of impaired consciousness, vomiting and generalised tonic-clonic seizures. One week later she developed a left homonymous hemianopia. She remained stable until the age of 13 years when she developed stimulus sensitive myoclonus, tremor and a progressive cerebellar ataxia. Mildly elevated blood lactate and alanine levels and a sensory axonal peripheral neuropathy. occipital lobe infarcts. COX negative fibres. gaze-evoked nystagmus at 17. hand tremor, stimulus- sensitive myoclonus, head titubation, and gait ataxia.
-myoclonic seizures
-cerebellar ataxia
-movement disorder (ataxia)
-peripheral neuropathy
-vomiting
-nystagmus
-tremor
childhood
616n/aRajakulendran et al, 2016;

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673A467T2
A467T2
Sudden falls, frequent negative myoclonus, ataxic gait and loss of proprioception in the distal extremities with nerve conduction studies demonstrating a mild axonal sensory polyneuropathy. myoclonic status epilepticus, generalized tonic–clonic seizure.
-status epilepticus
-myoclonic seizures
-movement disorder (ataxia)
-polyneuropathy
childhood
121827Janssen et al, 2016;

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84A467T2
A467T2
PEO, ataxia, seizures, encephalopathy, ptosis, sensory neuropathy, mtDNA multiple deletions. 20% COX deficient fibers, 3% ragged red fibers.
-movement disorder (ataxia)
-ragged red fibers
-ptosis
-PEO
-encephalopathy
childhood
12n/an/aStewart et al, 2009;

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614A467T2
A467T2
Increasing gait unsteadiness, mild cognitive decline in the fifth decade. Cataracts. ataxic gait. Deep tendon reflexes were absent. Vibration and position sense were absent at the lower limbs early on, whereas light touch sensation was decreased at a later stage. Pes Cavus. gaze paresis, nystagmus. axonal generalized peripheral neuropathy. brainstem dysfunction.
-movement disorder (ataxia)
-peripheral neuropathy
-nystagmus
juvenile
n/a49n/aVan Goethem et al, 2004;

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613A467T2
A467T2
at 18 year of age, he hadstatus epilepticus lasting 8 days, followed by a “Todd paralysis” of the left arm and face. Five years later, he had an acute psychiatric illness, hyperventilation, gastrointestinal symptoms, gait unsteadiness, and disturbed limb coordination. Between 32 and 35 years of age, he lost 13 kg of weight. On exami- nation, he had sensory gait ataxia, limb ataxia, areflexia, generalized dystrophy, and loss of vibration and static joint position sense at the distal lower limbs, severe dysarthria, and a left-sided Babinski sign. Romberg test was positive. intestinal pseudo-obstruction, anorexia, and further weight loss. A few weeks later, he developed stupor (Glasgow coma scale, 5/15), hyperventilation, myoclonic jerks, and seizures necessitating intensive care and artificial ventilation. gastroparesis. dilated cardiomyopathy.
-status epilepticus
-movement disorder (ataxia)
-myopathy
-paralysis
-GI dysmotility
-dysarthria
-areflexia
juvenile
18n/a39Van Goethem et al, 2004;

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592A467T2
A467T2
Headache, tremor, sensory ataxia, dysarthria, nystagmus, ophthalmoplegia, cognitive dysfunction, axonal neuropathy, demyelinating neuropathy. She had headaches with preceding visual symptoms diagnosed as migraine that started at age 16. Episodic, involuntary jerking movements involving head and hands developed soon after. At age 18 she had two tonic clonic seizures preceded by poor concentration, confusion, and increased involuntary movements. Examination recorded titubation and myoclonus of the arms diminished reflexes in the legs, and reduced proprioception at the hallux. She has recurrent seizures and frequent headaches. At age 26 cerebellar and sensory ataxia, dysarthria, limita- tion of horizontal and vertical eye movements, and absent reflexes were recorded. COX negative fibers. At age 37 she was admitted with status epilepticus preceded by headache and visual symptoms in the right visual field. She remains ataxic but ambulant with assistance.
-status epilepticus
-myoclonic seizures
-movement disorder (ataxia)
-sensory ataxia
-demyelinating neuropathy
-ophthalmoplegia
-headache/ migraine
-dysarthria
-nystagmus
-tremor
juvenile
1639n/aWinterthun et al, 2005;

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615A467T2
A467T2
Increasing gait unsteadiness. ataxic gait. Deep tendon reflexes were absent. Vibration and position sense were absent at the lower limbs early on, whereas light touch sensation was decreased at a later stage. Pes Cavus. Dysarthria. horizontal and vertical gaze-evoked nystagmus. axonal generalized peripheral neuropathy. brainstem dysfunction.
-movement disorder (ataxia)
-peripheral neuropathy
-dysarthria
-nystagmus
juvenile
n/a47n/aVan Goethem et al, 2004;

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590A467T2
A467T2
At age 17, she had an epileptic seizure preceded by tiredness and blurred vision. Visual blurring and poor memory persisted and 5 days later she developed status epilepticus with a focal start in the right arm. Examination showed horizontal nystagmus that did not settle, normal eye movements, and normal peripheral findings except that the deep tendon reflexes were recorded as weak. She returned 3 years later at age 20 with headache and unsteadiness. myoclonus and progressive ophthalmoplegia, ataxia, frequent myoclonic jerks. Cognitive dysfunction, axonal neuropathy.
-status epilepticus
-myoclonic seizures
-movement disorder (ataxia)
-demyelinating neuropathy
-ophthalmoplegia
-headache/ migraine
-nystagmus
juvenile
1749n/aWinterthun et al, 2005;

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547A467T2
A467T2
Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO
-epilepsy
-movement disorder (ataxia)
-PEO
-stroke
juvenile
16n/a53Tzoulis et al, 2014;

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690A467T2
A467T2
Epilepsy, ataxia
-epilepsy
-movement disorder (ataxia)
juvenile
16n/an/aAshley et al, 2008;

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545A467T2
A467T2
Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO
-epilepsy
-movement disorder (ataxia)
-PEO
-stroke
juvenile
15n/a44Tzoulis et al, 2014;

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460A467T2
A467T2
Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-ophthalmoplegia
-external ophthalmoplegia
-stroke
-stroke-like episodes
juvenile
16n/a53Tzoulis et al, 2013;

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461A467T2
A467T2
Epilepsy, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-ophthalmoplegia
-external ophthalmoplegia
juvenile
1542n/aTzoulis et al, 2013;

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382A467T2
A467T2
Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, myoclonus, neuropathy
-status epilepticus
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-headache/ migraine
-nystagmus
juvenile
1520n/aTzoulis et al, 2006;

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83A467T2
A467T2
Age 19.6, developmental delay, after 18 years, rapid onset of muscle weakness, ataxia, myoclonic seizures, optic atrophy, diplopia, dysarthria. 102% mtDNA copy number in blood.
-myoclonic seizures
-movement disorder (ataxia)
-optic atrophy
-muscle weakness
-diplopia
-developmental delay
-dysarthria
juvenile
1820n/aTang et al, 2011;

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356A467T2
A467T2
CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, ragged red fibers, presence of mitochondrial dna deletions in muscle, Sensory and motor neuronopathy, Distal neurogenic change, proximal myopathy.
-peripheral neuropathy
-ragged red fibers
-myopathy
-ptosis
-PEO
juvenile
1836n/aLax et al, 2012a;

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334A467T2
A467T2
Migraine, seizures, dysphasia, magnesium infusion stopped the seizures
-headache/ migraine
juvenile
17n/an/aVisser et al, 2011;

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333A467T2
A467T2
Seizures, magnesium infusion stopped the seizures
-no known symptoms
juvenile
19n/an/aVisser et al, 2011;

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314A467T2
A467T2
Elevated CSF protein, occipital stroke, visual field deficit, peripheral neuropathy, migraine, epilepsy, ataxia, myoclonus, progressive gait ataxia, ophthalmoplegia, dysarthria, dysphagia, valproate induced encephalopathy and depression
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-ophthalmoplegia
-stroke
-headache/ migraine
-encephalopathy
-dysphagia
-dysarthria
juvenile
1839n/aBrinjikji et al, 2011;

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87A467T2
A467T2
Onset 23 years with ataxia, neuropathy, hearing loss, seizures, and VPA liver failure. From "Saneto et al, 2010": Sensory neuropathy, ataxia, seizure onset at 15 years, simple partial seizure and epilepsia partialis continua myoclonus, VPA treatment caused liver failure after 3 months, progressive encephalopathy, Sensorineural hearing loss, dysmetria, intention tremor, hypotonia
-myoclonic seizures
-epilepsia partialis
-movement disorder (ataxia)
-liver failure
-hypotonic
-encephalopathy
-tremor
-hearing loss
juvenile
152323.5Wong et al, 2008;

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82A467T2
A467T2
Stroke/ischaemic episodes, ataxia, seizures, myoclonic seizures, peripheral neuropathy, CPEO. 114% mtDNA copy number in blood.
-myoclonic seizures
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-stroke
-ischaemic episodes
adult
n/a40n/aTang et al, 2011;

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504A467T2
A467T2
Ataxia, ptosis, pareses, sensory neuropathy, motor neuropathy, axonal neuropathy
-movement disorder (ataxia)
-demyelinating neuropathy
-ptosis
adult
3840n/aHanisch et al, 2014;

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85A467T2
A467T2
PEO, ataxia, ataxic sensory axonal neuropathy, dysarthria, multiple mtDNA deletions. 10% COX deficient fibers, 2% RRF.
-movement disorder (ataxia)
-demyelinating neuropathy
-PEO
-dysarthria
adult
30n/an/aStewart et al, 2009;

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671A467T2
A467T2
At 21 years, presented with a first generalized tonic–clonic seizure. She complained of migraine afterward and developed a convulsive status epilepticus. Visual hallucinations, jerking of the right arm with secondary generalization. She died 7 months after initial presentation.
-status epilepticus
-headache/ migraine
adult
212121.6Janssen et al, 2016;

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665A467T2
A467T2
MELAS. Occipital headaches. left homonymous hemianopia suggestive of a stroke-like episode. right occipital infarct. Jerking movements of her left arm suggestive of epilepsia partialis continua with dystonia, which was refractory to treatment. She developed an asymptomatic axonal neuropathy, deafness and myopathic weakness. bilateral ptosis, ophthalmoparesis, a dense left homonymous hemianopia, dysarthric speech, increased tone with clawing of the left hand, and distal muscle weakness. In addition, Romberg’s test was positive and she walked with a wide-based gait. ataxic gait. axonal sensory motor neuropathy. ragged red fibres and COX-negative fibres.
-epilepsia partialis
-movement disorder (ataxia)
-demyelinating neuropathy
-ragged red fibers
-muscle weakness
-cox-negative
-ptosis
-PEO
-stroke
-headache/ migraine
-dystonia
adult
2431n/aRajakulendran et al, 2016;

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664A467T2
A467T2
SANDO. Severe axonal neuropathy. COX-negative fibres, ragged red fibres. presented at the age of 20 years with diplopia and bilateral ptosis. Over the next five years he developed dysphagia, slurred speech and an unsteady gait. tingling sensation in hands, feet, leg, trunk and arms. at 44 years demonstrated bilateral ptosis and limitation of eye movements in all directions of gaze. dysarthria. Romberg’s test was positive. ataxic gait. axonal sensory peripheral neuropathy. ragged red fibres and more than 10 COX-negative fibres.
-movement disorder (ataxia)
-peripheral neuropathy
-demyelinating neuropathy
-ragged red fibers
-cox-negative
-ptosis
-diplopia
-dysphagia
-dysarthria
adult
2044n/aRajakulendran et al, 2016;

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86A467T2
A467T2
Ataxia, peripheral neuropathy, muscle weakness, easy fatigability, CPEO, abnormal EMG/NCV, ptosis, delayed gastric emptying, diarrhoea, constipation, lactic acidosis, abnormal muscle ultratstructure, ragged red fibers. 75% mtDNA copy number in blood.
-lactic acidosis
-movement disorder (ataxia)
-peripheral neuropathy
-ragged red fibers
-muscle weakness
-ptosis
-PEO
-delayed gastric emptying
adult
n/a46n/aTang et al, 2011;

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277A467T2
A467T2
progressive bilateral ptosis, limited eye movements, lower extremities paresthesias, and unsteadiness, Multiple mtDNA deletions detected by PCR in muscle
-ptosis
adult
3134n/aMilone et al, 2011;

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308A467T2
A467T2
progressive imbalance, hand and foot numbness, with impotence and dysarthria, progressive diplopia, bilateral ptosis with severe ophthalmoparesis in all directions and diplopia on lateral gaze. There was mild dysarthria and severe sensory ataxia, mild weakness in proximal and distal muscle groups, myopathy, multiple mtDNA deletions in muscle.
-movement disorder (ataxia)
-sensory ataxia
-myopathy
-ptosis
-PEO
-diplopia
-dysarthria
adult
4146n/aMcHugh et al, 2010;

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309A467T2
A467T2
progressive difficulty walking, hand and foot numbness, ataxia, dysarthria, ptosis, sensory ataxia, with progressive ophthalmoplegia, dysarthria, nystagmus, dysphagia. Dysarthria became evident from age 55 years, and she developed ptosis at 62 years.
-movement disorder (ataxia)
-sensory ataxia
-ptosis
-ophthalmoplegia
-dysphagia
-dysarthria
-nystagmus
adult
4262n/aMcHugh et al, 2010;

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348A467T2
A467T2
ptosis, PEO, muscle weakness, fatigability, peripheral neuropathy, ataxia, lactic acidosis and diarrhea alternating with constipation, ragged-red fibers,
-lactic acidosis
-movement disorder (ataxia)
-peripheral neuropathy
-ragged red fibers
-muscle weakness
-ptosis
-PEO
-diarrhea
adult
n/a46n/aTang et al, 2012;

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361A467T2
A467T2
CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, presence of mitochondrial dna deletions in muscle, Severe sensory and moderate motor neuronopathy, Distal and proximal neurogenic change,
-peripheral neuropathy
-ptosis
-PEO
adult
4144n/aLax et al, 2012a;

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81A467T2
A467T2
Onset 32 years with neuropathy, myopathy, SANDO, PEO.
-myopathy
-PEO
adult
32n/an/aWong et al, 2008;

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1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

Number of displayed patient cases: 46
Avg age of onset in displayed cases: 19.8
Std dev in onset in displayed cases: 13.5

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Patients for cluster combinations:
First cluster: Second cluster:
Age group: Any Infantile Childhood Juvenile Adult
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