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21 patient data entries in database for clusters 2 and 2 in age group "juvenile". Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 460 | A467T2
| A467T2
| Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO). | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 16 | n/a | 53 | Tzoulis et al, 2013; [view data] | | 690 | A467T2
| A467T2
| Epilepsy, ataxia | | - | movement disorder (ataxia) | |
| | 16 | n/a | n/a | Ashley et al, 2008; [view data] | | 615 | A467T2
| A467T2
| Increasing gait unsteadiness. ataxic gait. Deep tendon reflexes were absent. Vibration and position sense were absent at the lower limbs early on, whereas light touch sensation was decreased at a later stage. Pes Cavus. Dysarthria. horizontal and vertical gaze-evoked nystagmus. axonal generalized peripheral neuropathy. brainstem dysfunction. | | - | movement disorder (ataxia) | |
| | n/a | 47 | n/a | Van Goethem et al, 2004; [view data] | | 614 | A467T2
| A467T2
| Increasing gait unsteadiness, mild cognitive decline in the fifth decade. Cataracts. ataxic gait. Deep tendon reflexes were absent. Vibration and position sense were absent at the lower limbs early on, whereas light touch sensation was decreased at a later stage. Pes Cavus. gaze paresis, nystagmus. axonal generalized peripheral neuropathy. brainstem dysfunction. | | - | movement disorder (ataxia) | |
| | n/a | 49 | n/a | Van Goethem et al, 2004; [view data] | | 613 | A467T2
| A467T2
| at 18 year of age, he hadstatus epilepticus lasting 8 days, followed by a “Todd paralysis” of the left arm and face. Five years later, he had an acute psychiatric illness, hyperventilation, gastrointestinal symptoms, gait unsteadiness, and disturbed limb coordination. Between 32 and 35 years of age, he lost 13 kg of weight. On exami- nation, he had sensory gait ataxia, limb ataxia, areflexia, generalized dystrophy, and loss of vibration and static joint position sense at the distal lower limbs, severe dysarthria, and a left-sided Babinski sign. Romberg test was positive. intestinal pseudo-obstruction, anorexia, and further weight loss. A few weeks later, he developed stupor (Glasgow coma scale, 5/15), hyperventilation, myoclonic jerks, and seizures necessitating intensive care and artificial ventilation. gastroparesis. dilated cardiomyopathy. | | - | movement disorder (ataxia) | |
| | 18 | n/a | 39 | Van Goethem et al, 2004; [view data] | | 592 | A467T2
| A467T2
| Headache, tremor, sensory ataxia, dysarthria, nystagmus, ophthalmoplegia, cognitive dysfunction, axonal neuropathy, demyelinating neuropathy. She had headaches with preceding visual symptoms diagnosed as migraine that started at age 16. Episodic, involuntary jerking movements involving head and hands developed soon after. At age 18 she had two tonic clonic seizures preceded by poor concentration, confusion, and increased involuntary movements. Examination recorded titubation and myoclonus of the arms diminished reflexes in the legs, and reduced proprioception at the hallux. She has recurrent seizures and frequent headaches. At age 26 cerebellar and sensory ataxia, dysarthria, limita- tion of horizontal and vertical eye movements, and absent reflexes were recorded. COX negative fibers. At age 37 she was admitted with status epilepticus preceded by headache and visual symptoms in the right visual field. She remains ataxic but ambulant with assistance. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 16 | 39 | n/a | Winterthun et al, 2005; [view data] | | 590 | A467T2
| A467T2
| At age 17, she had an epileptic seizure preceded by tiredness and blurred vision. Visual blurring and poor memory persisted and 5 days later she developed status epilepticus with a focal start in the right arm. Examination showed horizontal nystagmus that did not settle, normal eye movements, and normal peripheral findings except that the deep tendon reflexes were recorded as weak. She returned 3 years later at age 20 with headache and unsteadiness. myoclonus and progressive ophthalmoplegia, ataxia, frequent myoclonic jerks. Cognitive dysfunction, axonal neuropathy. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 17 | 49 | n/a | Winterthun et al, 2005; [view data] | | 588 | T251I
P587L2
| T251I
P587L2
| Alpers. nocturnal nausea followed by loss of consciousness without motor relinquishing. obsessive–compulsive disorder. | | | 16 | 26 | n/a | Stewart et al, 2011; [view data] | | 547 | A467T2
| A467T2
| Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO | | - | movement disorder (ataxia) | |
| | 16 | n/a | 53 | Tzoulis et al, 2014; [view data] | | 545 | A467T2
| A467T2
| Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO | | - | movement disorder (ataxia) | |
| | 15 | n/a | 44 | Tzoulis et al, 2014; [view data] | | 461 | A467T2
| A467T2
| Epilepsy, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO). | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 15 | 42 | n/a | Tzoulis et al, 2013; [view data] | | 83 | A467T2
| A467T2
| Age 19.6, developmental delay, after 18 years, rapid onset of muscle weakness, ataxia, myoclonic seizures, optic atrophy, diplopia, dysarthria. 102% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| | 18 | 20 | n/a | Tang et al, 2011; [view data] | | 382 | A467T2
| A467T2
| Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, myoclonus, neuropathy | | - | movement disorder (ataxia) | |
| | 15 | 20 | n/a | Tzoulis et al, 2006; [view data] | | 356 | A467T2
| A467T2
| CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, ragged red fibers, presence of mitochondrial dna deletions in muscle, Sensory and motor neuronopathy, Distal neurogenic change, proximal myopathy. | | | 18 | 36 | n/a | Lax et al, 2012a; [view data] | | 334 | A467T2
| A467T2
| Migraine, seizures, dysphasia, magnesium infusion stopped the seizures | | | 17 | n/a | n/a | Visser et al, 2011; [view data] | | 333 | A467T2
| A467T2
| Seizures, magnesium infusion stopped the seizures | | | 19 | n/a | n/a | Visser et al, 2011; [view data] | | 314 | A467T2
| A467T2
| Elevated CSF protein, occipital stroke, visual field deficit, peripheral neuropathy, migraine, epilepsy, ataxia, myoclonus, progressive gait ataxia, ophthalmoplegia, dysarthria, dysphagia, valproate induced encephalopathy and depression | | - | movement disorder (ataxia) | |
| | 18 | 39 | n/a | Brinjikji et al, 2011; [view data] | | 310 | R597W2
| R597W2
| Complex partial seizures at age 14, treated with VPA. In 2 months, he had bilateral foot drop, pes cavus, and mild ophthalmoplegia without obvious cognitive abnormality and peripheral neuropathy, pancreatitis that progressed to multiple organ failure including kidneys, liver, lung, and pancreas. VPA was stopped, ragged red fibers, and COX-negative fibers, Although VPA was stopped, his liver function impairment progressed. Despite aggressive supportive care, he unfortunately died of sepsis and adult respiratory distress syndrome 27 days after the biopsy | | | 14 | 18 | 18.5 | Saneto et al, 2010; [view data] | | 139 | R597W2
| R597W2
| Seizures and developing PEO, peripheral neuropathy, and death occurred after VPA treatment. 53% mtDNA copy number in muscle. | | | n/a | 18 | n/a | Tang et al, 2011; [view data] | | 135 | H569Q2
| H569Q2
| Onset 15 years presenting encephalopathy, no epilepsy or hepatopathy. 78% mtDNA copy number in muscle. | | | 15 | n/a | n/a | Ashley et al, 2008; [view data] | | 87 | A467T2
| 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 | | - | movement disorder (ataxia) | |
| | 15 | 23 | 23.5 | 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: 21
Avg age of onset in displayed cases: 19.4
Std dev in onset in displayed cases: 9.4
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