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17 patient data entries in database for clusters 2 and 2 in age group "childhood".

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
425K768E2
M464T2
Slowly progressive isolated neuropathy. At 5 years of age, she presented generalized areflexia. At 20 years of presented with sensory ataxia followed by distal muscle weakness and hypoesthesia of the lower limbs. Axonal sensorimotor polyneuropathy, sensory ataxia, muscle biopsy revealed numerous RRF, COX-negative fibers (5%) and mtDNA multiple deletions.
-movement disorder (ataxia)
-sensory ataxia
-polyneuropathy
-axonal sensorimotor polyneuropathy
-muscle weakness
-cox-negative
-areflexia
childhood
553n/aRouzier et al, 2013;

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

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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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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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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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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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138R597W2
R597W2
Onset 10 years of age presenting as PEO with ataxia, myopathy, exercise intolerance, peripheral neuropathy, dysarthria, GI problems multiple deletions in muscle mtDNA. 1%RRF, 18% COX deficient fibers.
-movement disorder (ataxia)
-peripheral neuropathy
-exercise intolerance
-myopathy
-PEO
-GI problems
-dysarthria
childhood
10n/an/aStewart et al, 2009;

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119R574W2
A467T2
Alpers. Alive at 10 years. Sister died at age 27.
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
childhood
310n/aSpinazzola et al, 2009;

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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: 17
Avg age of onset in displayed cases: 7.5
Std dev in onset in displayed cases: 3.0

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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