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15 patient data entries in database for mutation R852C.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
80G11D
R852C1
A467T2
Alpers, seizures, abnormal liver function, mild lactic acidosis, normal histology of COX fibers.
-lactic acidosis
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
1.25n/an/aStewart et al, 2009;

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109R852C1
G11D
A467T2
Seizures, myoclonic seizures, intractable seizures, hepatic failure, elevated transaminases, Apnes/Hypoventilation, respiratory deficiency/failure, lactic acidosis, organic aciduria/tiglyglycine, low plasma carnitine, abnormal EEG. 108% mtDNA copy number in blood.
-lactic acidosis
-myoclonic seizures
-intractable seizure
-liver failure
-respiratory deficiency
infantile
n/a0.8n/aTang et al, 2011;

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146R852C1
G11D
R627Q5
Dementia/encephalopathy, infantile spasms, cerebral artery occlusion, headache/migraine, stroke, constipation. 74% mtDNA copy number in blood.
-stroke
-headache/ migraine
-encephalopathy
-dementia
juvenile
n/a25n/aTang et al, 2011;

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187W748S5
R852C1
G11D
reported as Alpers, onset at 1 years, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 32% mtDNA copy number in liver.
-epilepsy
-movement disorder (ataxia)
-encephalopathy
-Alpers syndrome
-developmental delay
infantile
1n/an/aAshley et al, 2008;

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188A467T2
R852C1
G11D
reported as Alpers, onset at 2 years, presenting encephalopathy with epilepsy, hepatopathy. 22% mtDNA copy number in muscle.
-epilepsy
-encephalopathy
-Alpers syndrome
-developmental delay
infantile
2.25n/an/aAshley et al, 2008;

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264R852C1
A467T2
Alpers
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
unknown
n/an/an/aNguyen et al, 2006;

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286W748S5
R852C1
G11D
Developmental retardation, Hypotonia, ataxia, seizures myoclonus, abnormal eye movement, gastrointestinal problems, hepatic involvement
-myoclonic seizures
-movement disorder (ataxia)
-hypotonic
-retardation
-GI problems
infantile
0.3n/a1.1Naess et al, 2009;

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321R852C1
A467T2
Myoclonic Seizures, visual disturbance, motor paresis, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, ataxia, Serum Lactate, liver mtDNA depletion, Alpers
-myoclonic seizures
-epilepsia partialis
-movement disorder (ataxia)
-developmental delay
-Alpers syndrome
-encephalopathy
infantile
1.33n/a5.08Hunter et al, 2011;

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329R852C1
A467T2
clonic seizures of the right arm and leg, Coma persisted and was accompanied by hypoglycaemia, tachycardia and oliguria, CSF proteinwas elevated, cortical blindness, anarthria and profound hypotonia, Liver dysfunction, prolonged focal seizures, acute encephalopathy,
-focal seizures
-liver dysfunction
-hypotonic
-encephalopathy
-cortical blindness
infantile
1.75n/a3.5McCoy et al, 2011;

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349R852C1
G11D
W748S5
E1143G
PEO, alpers disease, ataxia, seizure, hypotonia, developemental delay,
-movement disorder (ataxia)
-PEO
-hypotonic
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
0.001n/an/aVasta et al, 2012;

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457R852C1
W748S5
Q497H2
E1143G
Alpers/ Alpers–Huttenlocher.
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
n/an/an/aSofou et al, 2013;

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519G11D
R852C1
progressive cerebellar syndrome, slurred speech, balance disturbances, mild incoordination, type II diabetes mellitus, dysarthria, mild limb dysmetria, mildly impaired tandem gait, cerebellar ataxia. She had polyminimyoclonus of her outstretched hands, a positive glabellar tap and brisk deep tendon reflexes with flexor plantar responses. She had Rigidity in the legs worse than in the arms, brisk reflexes, and mild bilateral bradykinesia in association with dystonic posturing of the left hand. Dystonia.
-myoclonic seizures
-cerebellar ataxia
-movement disorder (ataxia)
-dysarthria
-dystonia
adult
4958n/aMehta et al, 2011;

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520W748S5
E1143G
G11D
R852C1
Alpers, Seizures, Epilepsia partialis continua, liver failure, stroke-like episode.
-epilepsia partialis
-stroke
-liver failure
-Alpers syndrome
-encephalopathy
-developmental delay
infantile
1.33n/an/aStewart et al, 2009;

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625G11D
R627Q5
R852C1
Seizures, PEO, Ataxia Neuropathy Spectrum, Stroke, chorea, ataxia, ptosis, retinitis pigmentosa, liver transplant
-movement disorder (ataxia)
-ptosis
-PEO
-stroke
juvenile
1519n/aWong et al, 2008;

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628G11D
R627Q5
R852C1
Ataxia Neuropathy Spectrum, Seizures, PEO, lactic acidosis, stroke, chorea, ataxia, ptosis, retinitis pigmentosa, liver transplans
-lactic acidosis
-movement disorder (ataxia)
-ptosis
-PEO
-stroke
juvenile
15n/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: 15
Avg age of onset in displayed cases: 8.8
Std dev in onset in displayed cases: 13.8

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Mutations:
Allele 1:Allele 2:
Separate multiple mutations with commas.
Use "PNF" for non-missense mutations.
Match: Inclusive Exact
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