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13 patient data entries in database for clusters A467T and A467T in age group "adult". Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 81 | A467T2
| A467T2
| Onset 32 years with neuropathy, myopathy, SANDO, PEO. | | | 32 | n/a | n/a | Wong et al, 2008; [view data] | | 82 | A467T2
| A467T2
| Stroke/ischaemic episodes, ataxia, seizures, myoclonic seizures, peripheral neuropathy, CPEO. 114% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| | n/a | 40 | n/a | Tang et al, 2011; [view data] | | 85 | A467T2
| A467T2
| PEO, ataxia, ataxic sensory axonal neuropathy, dysarthria, multiple mtDNA deletions. 10% COX deficient fibers, 2% RRF. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 30 | n/a | n/a | Stewart et al, 2009; [view data] | | 86 | A467T2
| A467T2
| Ataxia, peripheral neuropathy, muscle weakness, easy fatigability, CPEO, abnormal EMG/NCV, ptosis, delayed gastric emptying, diarrhoea, constipation, lactic acidosis, abnormal muscle ultratstructure, ragged red fibers. 75% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| - | delayed gastric emptying | |
| | n/a | 46 | n/a | Tang et al, 2011; [view data] | | 277 | A467T2
| A467T2
| progressive bilateral ptosis, limited eye movements, lower extremities paresthesias, and unsteadiness, Multiple mtDNA deletions detected by PCR in muscle | | | 31 | 34 | n/a | Milone et al, 2011; [view data] | | 308 | A467T2
| A467T2
| progressive imbalance, hand and foot numbness, with impotence and dysarthria, progressive diplopia, bilateral ptosis with severe ophthalmoparesis in all directions and diplopia on lateral gaze. There was mild dysarthria and severe sensory ataxia, mild weakness in proximal and distal muscle groups, myopathy, multiple mtDNA deletions in muscle. | | - | movement disorder (ataxia) | |
| | 41 | 46 | n/a | McHugh et al, 2010; [view data] | | 309 | A467T2
| A467T2
| progressive difficulty walking, hand and foot numbness, ataxia, dysarthria, ptosis, sensory ataxia, with progressive ophthalmoplegia, dysarthria, nystagmus, dysphagia. Dysarthria became evident from age 55 years, and she developed ptosis at 62 years. | | - | movement disorder (ataxia) | |
| | 42 | 62 | n/a | McHugh et al, 2010; [view data] | | 348 | A467T2
| A467T2
| ptosis, PEO, muscle weakness, fatigability, peripheral neuropathy, ataxia, lactic acidosis and diarrhea alternating with constipation, ragged-red fibers, | | - | movement disorder (ataxia) | |
| | n/a | 46 | n/a | Tang et al, 2012; [view data] | | 361 | A467T2
| A467T2
| CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, presence of mitochondrial dna deletions in muscle, Severe sensory and moderate motor neuronopathy, Distal and proximal neurogenic change, | | | 41 | 44 | n/a | Lax et al, 2012a; [view data] | | 504 | A467T2
| A467T2
| Ataxia, ptosis, pareses, sensory neuropathy, motor neuropathy, axonal neuropathy | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 38 | 40 | n/a | Hanisch et al, 2014; [view data] | | 664 | A467T2
| A467T2
| SANDO. Severe axonal neuropathy. COX-negative fibres, ragged red fibres. presented at the age of 20 years with diplopia and bilateral ptosis. Over the next five years he developed dysphagia, slurred speech and an unsteady gait. tingling sensation in hands, feet, leg, trunk and arms. at 44 years demonstrated bilateral ptosis and limitation of eye movements in all directions of gaze. dysarthria. Romberg’s test was positive. ataxic gait. axonal sensory peripheral neuropathy. ragged red fibres and more than 10 COX-negative fibres. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 20 | 44 | n/a | Rajakulendran et al, 2016; [view data] | | 665 | A467T2
| A467T2
| MELAS. Occipital headaches. left homonymous hemianopia suggestive of a stroke-like episode. right occipital infarct. Jerking movements of her left arm suggestive of epilepsia partialis continua with dystonia, which was refractory to treatment. She developed an asymptomatic axonal neuropathy, deafness and myopathic weakness. bilateral ptosis, ophthalmoparesis, a dense left homonymous hemianopia, dysarthric speech, increased tone with clawing of the left hand, and distal muscle weakness. In addition, Romberg’s test was positive and she walked with a wide-based gait. ataxic gait. axonal sensory motor neuropathy. ragged red fibres and COX-negative fibres. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 24 | 31 | n/a | Rajakulendran et al, 2016; [view data] | | 671 | A467T2
| A467T2
| At 21 years, presented with a first generalized tonic–clonic seizure. She complained of migraine afterward and developed a convulsive status epilepticus. Visual hallucinations, jerking of the right arm with secondary generalization. She died 7 months after initial presentation. | | | 21 | 21 | 21.6 | Janssen et al, 2016; [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: 13
Avg age of onset in displayed cases: 34.8
Std dev in onset in displayed cases: 8.7
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