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37 patient data entries in database for clusters W748S and 1.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
255E1143G
W748S5
G848S1
hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, microvesicular steatosis, fibrosis
-liver failure
-hepatocerebral
-developmental delay
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
0.3n/a1Davidzon et al, 2005;

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687T914P1
W748S5
mtDNA depletion in muscle, Epilepsy, hepatopathy, movement disorder
-epilepsy
-movement disorder (ataxia)
infantile
1.1n/an/aAshley et al, 2008;

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652R869X1
W748S5
Alpers syndrome. At the age of 12 months, he became progressively ataxic and recurrent convulsions appeared, developing quickly to severe epileptic encephalopathy. Fulminant liver failure. Severe mitochondrial depletion found in the liver tissue on autopsy.
-liver failure
-encephalopathy
-Alpers syndrome
-developmental delay
-epilepsy
infantile
1n/a2.5Kaliszewska et al, 2015;

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543E1143G
W748S5
E1163G1
Ragged Red Fibers, COX-Deficient Fibers. mtDNA depletion. He was healthy and his development was normal until 5 months of age. He developed failure to thrive and muscular hypotonia. At 4 years of age, he developed myoclonus, which was first limited to the right eye and the right side of the mouth, but then progressed to epilepsia partialis continua of the entire left side of the body without loss of consciousness. He has developed a complex movement disorder and cognitive impairment, but contact, speech, and memory functions have been retained. He also had ptosis and uncontrolled and uncoordinated movements, especially in his arms.
-myoclonic seizures
-epilepsia partialis
-movement disorder (ataxia)
-ragged red fibers
-ptosis
-failure to thrive
-hypotonic
infantile
0.417n/an/aKollberg et al, 2006;

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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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349G11D
R852C1
E1143G
W748S5
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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316G848S1
W748S5
Myoclonic Seizures, Generalized tonic-clonic seizures, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, ataxia, Abnormal Liver Enzymes, Serum Lactate, liver mtDNA depletion, Alpers
-myoclonic seizures
-epilepsia partialis
-movement disorder (ataxia)
-developmental delay
-Alpers syndrome
-encephalopathy
infantile
2n/a6.33Hunter et al, 2011;

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312G848S1
W748S5
seizure onset at 2 years, complex partial seizure and epilepsia partialis continua myoclonus, Truncal ataxia, intention tremor
-myoclonic seizures
-epilepsia partialis
-movement disorder (ataxia)
-tremor
infantile
24n/aSaneto et al, 2010;

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287G848S1
W748S5
Developemental delay, status epilepticus onset at 6 years 7 months, valproic acid therapy 6 weeks, liver failure with transplant, epilepsia partialis continua, elevated CSF lactate, elevated CSF protein, mtDNA depletion in liver
-status epilepticus
-epilepsia partialis
-liver failure
infantile
6.67.8n/aWolf et al, 2009;

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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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257E1143G
W748S5
G848S1
Refractory seizures, psychomotor regression, liver disease, presenting symptom was status epilepticus, Transient hypoglycemia, Transient lactic acidemia
-lactic acidosis
-status epilepticus
-intractable seizure
-liver dysfunction
-hypoglycemia
infantile
1n/a1.7Nguyen et al, 2005;

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160T914P1
E1143G
W748S5
developmental delay, vomiting, partial status epilepticus, epilepsia partialis continua, myoclonus, ataxia, alive at age 3.
-status epilepticus
-myoclonic seizures
-epilepsia partialis
-movement disorder (ataxia)
-developmental delay
-vomiting
infantile
2.53n/aIsohanni et al, 2011;

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253W748S5
E1143G
G848S1
hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, liver mtDNA depletion, microvesicular steatosis,
-liver failure
-hepatocerebral
-developmental delay
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
1n/a6.5Davidzon et al, 2005;

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252W748S5
E1143G
G848S1
hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, liver mtDNA depletion
-liver failure
-hepatocerebral
-developmental delay
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
0.7n/a2.5Davidzon et al, 2005;

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237W748S5
E1143G
G848S1
hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, liver mtDNA depletion, microvesicular steatosis.
-liver failure
-hepatocerebral
-developmental delay
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
0.1n/a0.9Davidzon et al, 2005;

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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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161T914P1
W748S5
Age 0.8, developmental delay, hypotonia, myoclinic seizures, spasticity, dystonia, exercise intolerance, GI reflux, abnormal EEG, elevated transaminases, increased signal basal ganglia, abnormal MRI, lactic acidosis, high CSF lactate.
-lactic acidosis
-exercise intolerance
-spasticity
-hypotonic
-developmental delay
-GI reflux
-dystonia
infantile
n/a0.8n/aTang et al, 2011;

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164D930N1
W748S5
Onset of Alpers at 3 months, death at 19 months. Bilateral lesions of thalami.
-Alpers syndrome
-bilateral lesions of thalami
-encephalopathy
-developmental delay
-epilepsy
infantile
0.3n/a1.5Spinazzola et al, 2009;

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167Q1236H
H1110Y1
E1143G
W748S5
Hypotonia at 8 weeks, seizures, hepatopathy, lactic acidemia, died of liver failure. 9% mtDNA copy number in muscle, 11% mtDNA copy number in liver.
-lactic acidosis
-liver failure
-hypotonic
infantile
0.1n/a0.8Taanman et al, 2009;

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170G848S1
W748S5
E1143G
Partial status epilepticus, epilepsia partialis, continua, hemiparesis, myoclonus, loss of vision, optical atrophy, pschomotor regression, liver dysfunction, death via pneumonia.
-status epilepticus
-myoclonic seizures
-hemiparesis
-epilepsia partialis
-liver dysfunction
-pschomotor regression
infantile
1n/a11Isohanni et al, 2011;

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172G888D1
W748S5
Seizures, ptosis, hepatic failure, ketosis, lactic acidosis, organic aciduria/tiglyglycine, elevated pyruvate, microcephaly, abnormal MRI. 33% mtDNA copy number in muscle, 46% mtDNA copy number in blood, ETC low.
-lactic acidosis
-ptosis
-liver failure
-microcephaly
-ketosis
infantile
n/a2n/aTang et al, 2011;

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197W748S5
T914P1
reported as Alpers, onset at 4 years, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 15% mtDNA copy number in liver.
-epilepsy
-movement disorder (ataxia)
-encephalopathy
-Alpers syndrome
-developmental delay
childhood
4n/an/aAshley et al, 2008;

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171G848S1
W748S5
Headaches/migrains, seizures, intractable seizure, cortical blindness. 32% mtDNA copy number in blood.
-intractable seizure
-headache/ migraine
-cortical blindness
childhood
n/a7n/aTang et al, 2011;

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163T914P1
W748S5
Seizures. 98% mtDNA copy number in blood.
-no known symptoms
childhood
n/a5n/aTang et al, 2011;

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174G848S1
W748S5
Reported as Alpers, onset at 6 years, presenting encephalopathy with epilepsy, hepatopathy absent, and movement disorder (ataxia).
-epilepsy
-movement disorder (ataxia)
-encephalopathy
-Alpers syndrome
-developmental delay
childhood
6n/an/aAshley et al, 2008;

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165R852H1
W748S5
Alpers. 46% mtDNA copy number in blood.
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
childhood
n/a3n/aTang et al, 2011;

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440T914P1
W748S5
Refractory generalized epilepsy with status epilepticus, hepatic cholestasis and cytolysis, proximal tubulopathy, hyperintensity of thalamus. mtDNA depletion.
-status epilepticus
-epilepsy
-cholestasis
childhood
6n/an/aRouzier et al, 2013;

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317G848S1
W748S5
Myoclonic Seizures, Generalized tonic-clonic seizures, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, ataxia, Abnormal Liver Enzymes, Serum Lactate, Alpers
-myoclonic seizures
-epilepsia partialis
-movement disorder (ataxia)
-developmental delay
-Alpers syndrome
-encephalopathy
childhood
6n/a6.75Hunter et al, 2011;

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173G848S1
W748S5
Hypotonia, myoclonus, or myoclonic seizures, intractable seizure, hepatic failure, abnormal EEG. 38% mtDNA copy number in blood.
-myoclonic seizures
-intractable seizure
-liver failure
-hypotonic
childhood
n/a5n/aTang et al, 2011;

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169G848S1
W748S5
E1143G
Onset at 6.5 years with alpers syndrome and death at 7.8 years. 23% mtDNA copy number in liver.
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
childhood
6.5n/a7.8Taanman et al, 2009;

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288G848S1
W748S5
status epilepticus onset epilepsia partialis continua, elevated CSF lactate, elevated CSF protein,
-status epilepticus
-epilepsia partialis
childhood
10.67n/a11.5Wolf et al, 2009;

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339T914P1
W748S5
Presented with generalized epilepsy and mild long-standing learning difficulties requiring special education, developed liver failure after taking valproate, migraines, right-sided epilepsia partialis continua, myoclonic arm jerks, a pancerebellar syndrome, and progressive cognitive impairment. mild external ophthalmoplegia, saccadic pursuit, writhing tongue movements, dysarthria, bilateral dysdiadochokinesis and dysmetria, mild sensory axonal peripheral neuropathy, ptosis
-epilepsy
-epilepsia partialis
-peripheral neuropathy
-ptosis
-ophthalmoplegia
-external ophthalmoplegia
-liver failure
-headache/ migraine
-dysarthria
juvenile
15n/an/aHinnell et al, 2012;

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655V1106A1
W748S5
SANDO. In spite of normal developmental milestones, the patient started to have walking difficulties at the age of 13 years. Her condition deteriorated, and she developed ataxic gait and dysarthria. Two years later, she developed action-exacerbated myoclonus. Nerve conduction studies showed sensorymotor polyneuropathy of lower limb nerves.
-myoclonic seizures
-movement disorder (ataxia)
-polyneuropathy
-dysarthria
juvenile
1315n/aKaliszewska et al, 2015;

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346R953C1
W748S5
Exercise intolerance, muscle weakness, persistent diarrhea, intermittent vomiting, bilateral ptosis, cognitive impairment with poor recall and expressive language difficulty, proximal myopathy, axonal sensorimotor peripheral neuropathy
-peripheral neuropathy
-muscle weakness
-exercise intolerance
-myopathy
-ptosis
-vomiting
-diarrhea
adult
n/a50n/aTang et al, 2012;

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166R953C1
W748S5
Peripheral neuropathy, CPEO, ptosis, COX deficiency, ragged red fibers, headaches/migraines, diarrhoea, lactic acidosis, hypotonia, ataxia, myoclonic seizures, exercise intolerance, muscle weakness, muscle cramps after exercise, optic atrophy, easy fatigability. 61% mtDNA copy number in muscle, 61% mtDNA copy number in blood.
-lactic acidosis
-myoclonic seizures
-movement disorder (ataxia)
-peripheral neuropathy
-optic atrophy
-ragged red fibers
-muscle weakness
-exercise intolerance
-ptosis
-PEO
-hypotonic
-headache/ migraine
adult
n/a51n/aTang et al, 2011;

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420W748S5
E1143G
A143V1
Peripheral neuropathy, PEO, ataxia, hearing loss, dysarthria-dysphonia, urinary tract involvement
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-dysarthria
-hearing loss
adult
4049n/aAmiot et al, 2009;

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657I1185N1
W748S5
A 52-year-old male patient, treated for hypertension and diabetes. Progressive ataxia with palatal tremor (PAPT). progressive gait and balance difficulties since two years. audible ear click and oscillopsia. On neurological examination, he had pendular vertical nystagmus, dysarthria, kinetic and static ataxia with severe postural instability, as well as palatal tremor. He became wheelchair-bound within 4 years after the first symptoms. Family history was unremarkable on the maternal side and unknown on the paternal side. The mother of the patient died at the age of 86 without evidence of neurologic disease.
-movement disorder (ataxia)
-dysarthria
-nystagmus
-tremor
adult
5052n/aNicastro et al, 2015;

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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: 37
Avg age of onset in displayed cases: 8.2
Std dev in onset in displayed cases: 14.3

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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