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8 patient data entries in database for mutations E1143G,Q497H. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 457 | R852C1
| W748S5
Q497H2
E1143G
| Alpers/ Alpers–Huttenlocher. | | | n/a | n/a | n/a | Sofou et al, 2013; [view data] | | 478 | G848S1
| Q497H2
W748S5
E1143G
| The index patient presented at the age of 8 months with microcephaly, seizures, and developmental delay. From the time of the first observation she rapidly developed epilepsia partialis continua, multifocal myoclonic jerks, and progressive psychomotor retardation. MRI performed at 8 months was generally unremarkable. By 9 months of age the brain MRI showed signifi cant changes including a diffuse severe cerebral and cerebellar atrophy involving gray and white matter. | | | n/a | 0.6 | 1 | Brunetti-Pierri et al, 2008; [view data] | | 479 | G848S1
| Q497H2
W748S5
E1143G
| He exhibited a very similar phenotype to his sister, with a catastrophic onset of intractable seizures at the age of 9 months, progressive encephalopathy with epilepsia partialis continua and myoclonic jerks, and developmental regression. MRI imaging was not performed. | | | 0.5 | 1.25 | n/a | Brunetti-Pierri et al, 2008; [view data] | | 480 | G848S1
| Q497H2
W748S5
E1143G
| He exhibited a very similar phenotype to his sister, with a catastrophic onset of intractable seizures at the age of 9 months, progressive encephalopathy with epilepsia partialis continua and myoclonic jerks, and developmental regression. MRI imaging was not performed. | | | 0.5 | 1.25 | n/a | Brunetti-Pierri et al, 2008; [view data] | | 593 | W748S5
Q497H2
E1143G
| W748S5
Q497H2
E1143G
| Ataxia, sensory ataxia, dysarthria, nystagmus, cognitive dysfunction, axonal neuropathy, demyelinating neuropathy. This man presented at age 26 with unsteadiness. Examination showed an ataxic gait, cerebellar dysarthria, myoclonic jerks of his head and facial muscles, mild limitation of horizontal eye movement, and horizontal nystagmus in the direction of gaze, with an additional vertical element when looking down. There were distal amyotrophy, absent reflexes in the legs, and a symmetric loss of all sensory modalities below the knee. Romberg’s test was positive. Episodes of depression. At age 31 he has an almost complete ophthalmoplegia, cerebellar dysarthria, myoclonus involving face and arms, truncal ataxia, and symmetric dysmetria. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 23 | 38 | n/a | Winterthun et al, 2005; [view data] | | 594 | W748S5
Q497H2
E1143G
| W748S5
Q497H2
E1143G
| Headaches, a focal epilepsy with secondary generalisation, occipital epilepsy, dysarthria, nystagmus, cognitive dysfunction. Demyelinating neuropathy, axonal neuropathy. headaches preceded by visual symptoms, nausea, vomiting, and unsteadiness diagnosed as migraine. Shortly after, she had the first of a series of tonic-clonic seizures preceded by headache. Examination showed horizontal and vertical nystagmus, gait ataxia. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 15 | 18 | n/a | Winterthun et al, 2005; [view data] | | 627 | Q497H2
W748S5
E1143G
| A467T2
| Hearing loss, Ataxia Neuropathy Spectrum, Seizures, dementia, developmental delay | | - | movement disorder (ataxia) | |
| | 17 | n/a | n/a | Wong et al, 2008; [view data] | | 641 | G848S1
| Q497H2
W748S5
E1143G
| developmental delay, dementia, seizures, Alpers, Family history of Alpers syndrome. | | | 1 | n/a | n/a | Wong et al, 2008; [view data] |
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: 8
Avg age of onset in displayed cases: 8.2
Std dev in onset in displayed cases: 9.0
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