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40 patient data entries collated from reference Wong et al, 2008.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
3G888S1
L83P1
Alpers is reported as diagnosis. Symptoms are cortical blindness, dementia, seizures, hepatopathy and hearing loss.
-dementia
-cortical blindness
-Alpers syndrome
-hearing loss
-encephalopathy
-developmental delay
-epilepsy
childhood
n/a10n/a
29K1191R1
T251I
P587L2
Developmental delay/dementia, liver dysfunction, lactic acidosis, fatigue, pancreatitis, cyclic vomiting.
-lactic acidosis
-liver dysfunction
-developmental delay
-dementia
-vomiting
-cyclic vomiting
-pancreatitis
infantile
n/a1n/a
49R853Q1
T251I
P587L2
Developmental delay, dementia, lactic acidosis, microcephaly, FTT, hearing loss, abnormal MRI.
-lactic acidosis
-failure to thrive
-developmental delay
-dementia
-microcephaly
-hearing loss
infantile
0.2n/an/a
81A467T2
A467T2
Onset 32 years with neuropathy, myopathy, SANDO, PEO.
-myopathy
-PEO
adult
n/a32n/a
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
231523.5
96L886P1
A467T2
Onset 1 years with dementia, seizures, and liver failure. Alpers
-liver failure
-dementia
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
11n/a
98T914P1
A467T2
Onset 2 years with dementia, seizures, and liver failure. Alpers
-liver failure
-dementia
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
n/a2n/a
121G737R5
A467T2
Onset 60 years with ataxia, neuropathy, myopathy, hearing loss, cerebellar atrophy, SANDO/SCAE, PEO.
-movement disorder (ataxia)
-cerebellar atrophy
-myopathy
-PEO
-hearing loss
adult
n/a60n/a
128R1138C1
A467T2
Onset 48 years with neuropathy, myopathy, SANDO, lactic acidosis PEO.
-lactic acidosis
-myopathy
-PEO
adult
n/a48n/a
133R1128H1
G517V2
Onset at 1 years with microcephaly, developmental delay/ dementia, and liver dysfunction. Authors reported as undiagnosed.
-liver dysfunction
-developmental delay
-dementia
-microcephaly
infantile
n/a1n/a
134D1196N1
G517V2
Onset at 1 years with myopathy, developmental delay/ dementia, RRF, and elevated CK. Authors reported as undiagnosed.
-myopathy
-developmental delay
-dementia
infantile
n/a1n/a
154R943C1
E1143G
G737R5
Onset at age 3 with dementia,lactic acidosis, renal tubulopathy, dysmorphic features, cataract, short stature, myopathy.
-lactic acidosis
-myopathy
-dementia
-renal tubulopathy
childhood
n/a3n/a
168W748S5
E1143G
W748S5
E1143G
Onset 33 years with neuropathy, myopathy, SANDO, lactic acidosis, PEO.
-lactic acidosis
-myopathy
-PEO
adult
n/a33n/a
191R964C1
A862T1
Onset 17 years with ataxia, exercise intolerance, cerbellar atrophy, SCAE, seizures, dementia.
-movement disorder (ataxia)
-exercise intolerance
-dementia
juvenile
n/a17n/a
208Y955C1
Onset 0.1 years with dementia, liver dysfunction, lactic acidosis, hearing loss, failure to thrive, generalized ETC complex deficiency.
-lactic acidosis
-liver dysfunction
-failure to thrive
-dementia
-hearing loss
infantile
n/a0.1n/a
219I1079L3
Onset 66 years with PEO, hearing loss, ptosis.
-ptosis
-PEO
-hearing loss
adult
n/a66n/a
222S1095R3
Onset 46 years with PEO, muscle weakness, optic atrophy, hearing loss, ptosis.
-optic atrophy
-muscle weakness
-ptosis
-PEO
-hearing loss
adult
n/a46n/a
232G1205A
Onset at 0.8 years with retinitis pigmentosa, hearing loss, failure to thrive, seizures, and dementia.
-failure to thrive
-dementia
-hearing loss
infantile
n/a0.8n/a
623Splice site
mutation:
c.2157+5_+6gc>ag
A467T2
Alpers, stroke, hypotonia, Dementia, developmental delay, seizures.
-stroke
-hypotonic
-developmental delay
-dementia
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
n/a1n/a
624Q1236H
Frameshift:
p.T849H(insC)fs868X
A467T2
Alpers, chorea, microcephaly, leukodystrophy, Seizures, Dementia, developmental delay.
-developmental delay
-dementia
-Alpers syndrome
-microcephaly
-encephalopathy
-epilepsy
infantile
n/a1.5n/a
625G11D
R627Q5
R852C1
Seizures, PEO, Ataxia Neuropathy Spectrum, Stroke, chorea, ataxia, ptosis, retinitis pigmentosa, liver transplant
-movement disorder (ataxia)
-ptosis
-PEO
-stroke
juvenile
1915n/a
626Splice site
mutation:
C.2480+1G>A
W748S5
E1143G
Muscle weakness, respiratory failure, Alpers, Lactic acidosis, Seizures, Demential , developmental delay
-lactic acidosis
-muscle weakness
-developmental delay
-dementia
-respiratory deficiency
-Alpers syndrome
-encephalopathy
-epilepsy
childhood
n/a4n/a
627Q497H2
W748S5
E1143G
A467T2
Hearing loss, Ataxia Neuropathy Spectrum, Seizures, dementia, developmental delay
-movement disorder (ataxia)
-developmental delay
-dementia
-hearing loss
juvenile
n/a17n/a
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
n/a15n/a
629G848S1
A467T2
Developmental delay, dementia, seizures, Alpers, Ataxia
-movement disorder (ataxia)
-developmental delay
-dementia
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
n/a2n/a
630G848S1
A467T2
Developmental delay, dementia, seizures, Alpers, Lactic acidosis, Stroke
-lactic acidosis
-stroke
-developmental delay
-dementia
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
n/a2n/a
631G848S1
A467T2
Developmental delay, dementia, seizures, Alpers, Lactic acidosis, Cortical athrophy, hypoglycemia
-lactic acidosis
-developmental delay
-dementia
-Alpers syndrome
-hypoglycemia
-encephalopathy
-epilepsy
infantile
n/a1.5n/a
632G848S1
A467T2
Developmental delay, dementia, seizures, Alpers, Stroke, ataxia, exercise intolerance
-movement disorder (ataxia)
-exercise intolerance
-stroke
-developmental delay
-dementia
-Alpers syndrome
-encephalopathy
-epilepsy
childhood
n/a9n/a
633G848S1
A467T2
Developmental delay, dementia, seizures, Alpers, hypotonia, failure to thrive
-failure to thrive
-hypotonic
-developmental delay
-dementia
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
n/a0.8n/a
634G848S1
A467T2
Developmental delay, dementia, seizures, Alpers
-developmental delay
-dementia
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
n/a2n/a
635Frameshift:
p.L424GfsX28
A467T2
Developmental delay, dementia, seizures, Alpers, Family history of acute liver failure
-liver failure
-developmental delay
-dementia
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
n/a1n/a
636Nonsense
mutation:
Q68X
A467T2
Developmental delay, dementia, seizures, Alpers, Ptosis, ataxia, visual hallucinations
-movement disorder (ataxia)
-ptosis
-developmental delay
-dementia
-Alpers syndrome
-encephalopathy
-epilepsy
childhood
n/a3n/a
637Nonsense
mutation:
Q715X
A467T2
Developmental delay, dementia, seizures, Alpers
-developmental delay
-dementia
-Alpers syndrome
-encephalopathy
-epilepsy
childhood
n/a4n/a
638T914P1
A467T2
Developmental delay, dementia, seizures, Alpers
-developmental delay
-dementia
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
n/a2n/a
639G848S1
T251I
P587L2
Alpers
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
n/a0.5n/a
640R1096C3
Q1236H
R1096C3
Q1236H
developmental delay, dementia, seizures, Alpers, Family history of Alpers syndrome.
-developmental delay
-dementia
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
n/a1n/a
641G848S1
Q497H2
W748S5
E1143G
developmental delay, dementia, seizures, Alpers, Family history of Alpers syndrome.
-developmental delay
-dementia
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
n/a1n/a
642S305R3
developmental delay, dementia, lactic acidosis, alpers
-lactic acidosis
-developmental delay
-dementia
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
n/a1n/a
643V855A1
Muscle weakness, PEO
-muscle weakness
-PEO
childhood
n/a9n/a
644R617C2
Lactic acidosis, Muscle weakness, exercise intolerance, hearing loss, arhytthmia
-lactic acidosis
-muscle weakness
-exercise intolerance
-hearing loss
adult
n/a39n/a

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.

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