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16 patient data entries collated from reference Rouzier et al, 2013. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 425 | K768E2
| M464T2
| Slowly progressive isolated neuropathy. At 5 years of age, she presented generalized areflexia. At 20 years of presented with sensory ataxia followed by distal muscle weakness and hypoesthesia of the lower limbs. Axonal sensorimotor polyneuropathy, sensory ataxia, muscle biopsy revealed numerous RRF, COX-negative fibers (5%) and mtDNA multiple deletions. | | - | movement disorder (ataxia) | |
| - | axonal sensorimotor polyneuropathy | |
| | 53 | 5 | n/a | | 426 | S1080I3
| L79F
| Polyendocrinopathy with adrenocortical insufficiency and hypothyroidy, refractory generalized status epilepticus, cerebral white matter lesions. This young girl had suffered from migraines and lack of coordination since early childhood. At 7 years of age, she developed a multiendocrine disease with adrenocortical insufficiency and hypothyroidy. At 8 years of age, she developed a refractory status epilepticus followed by coma. Brain magnetic resonance imaging (MRI) showed white matter involvement. Healthy parents were both heterozygous carriers. | | | 8 | 8 | 8 | | 427 | S1080I3
| L79F
| R-EPC (refractory epilepsia partialis continua), cerebellar ataxia, ptosis, symmetrical signal abnormalities of thalami and parieto-occipital cortex. Suffered from lack of coordination since childhood. At 8 years of age, she developed left partial seizures leading to refractory EPC during an episode of asthenia and headache. No endocrine dysfunction was noticed. A few weeks later, clinical examination revealed cerebellar ataxia, slight ptosis, left hemiparesis and lateral homonymous hemianopsia. After initial improvement, she developed contralateral EPC with cortical blindness. MRI showed initially lesions of right thalamus and right parieto-occipital cortex, and then bilateral and symmetrical lesions. Healthy parents were both heterozygous carriers. | | - | movement disorder (ataxia) | |
| | 8 | 8 | n/a | | 428 | Indel:
p.Arg1161_Phe1180del20
| W748S5
| R-EPC (refractory epilepsia partialis continua), delayed psychomotor development. Has unrelated healthy parents. Pregnancy and birth were unremarkable. She had had a moderately delayed psychomotor development with sitting posture at 9 months of age and walking at 20 months of age. At 3 years old, she presented with acute partial status epilepticus. After this first episode, she developed refractory EPC with neurological regression leading to a severe encephalopathy. At 4 years, she was unable to hold her head up or to sit and had poor contact. Muscle biopsy showed lipid accumulation and spectrophotometric measurements of the indivi- dual RC complexes revealed CIII deficiency, associated with decreased activitiy of complexes II and V. In the liver, specific activity of complexes I, III and V was also affected. mtDNA depletion was identified by qPCR (25% of the mean normal control amount of mtDNA relative to nuclear DNA in the muscle and 30% in the liver). Sequencing identified only one heterozygous mutation (p.Trp748Ser) in POLG, inherited from the mother. | | | 4 | 2 | n/a | | 429 | | A467T2
| LS-like, sensorimotor neuropathy. At 56 years old, patient 13 developed a motor neuron disease with severe tetraparesis, dysphonia and respiratory insufficiency leading to death a few years later. Muscular biopsy was strongly evocative of mitochondrial disease with a generalized RC deficiency, multiple mtDNA deletions and decreased mtDNA copy number in the muscle (39%). | | | 56 | 56 | 60 | | 430 | | P1073L3
| Myopathy, myoclonic epilepsy, renal tubulopathy, muscle weakness, amyotrophy, myoclonic epilepsy and lipid accumulation. Cerebrospinal fluid and blood lactate concentrations were elevated. Muscle biopsy showed lipid myopathy with no biochemical RC deficiency and neither depletion nor deletions of mtDNA. | | | n/a | 5 | n/a | | 431 | | R1187W1
| Hepatic failure, myopathy, psychomotor delay. 14-year-old boy born of healthy consanguineous parents. He presented delayed psychomotor development and mus- cular weakness associated with hepatopathy. He had recurrent episodes of cholestasis and cytolysis and liver biopsy showed fibrosis and severe steatosis. He was heterozygous for the p.Arg1187Trp mutation, previously identified in a patient with mitochondrial depletion syndrome and T-cell immunodeficiency. | | | n/a | 14 | n/a | | 433 | | R232H4
| Axonal sensorimotor neuropathy, sensory ataxia, parkinsonism. | | - | movement disorder (ataxia) | |
| - | axonal sensorimotor polyneuropathy | |
| | n/a | 25 | n/a | | 434 | | R232H4
| Axonal sensorimotor neuropathy | | - | axonal sensorimotor polyneuropathy | |
| | n/a | 30 | n/a | | 435 | | R232H4
| Axonal sensorimotor neuropathy, sensory ataxia. Very mild axonal neuropathy identified in this patient's daughter. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| - | axonal sensorimotor polyneuropathy | |
| | n/a | 20 | n/a | | 436 | | D1184N1
| CPEO, axonal sensory neuronopathy, parkinsonism. late-onset CPEO with a sensory neuropathy and a Parkinsonian syndrome. | | - | axonal sensorimotor polyneuropathy | |
| | n/a | 70 | n/a | | 437 | | D1184N1
| CPEO, axonal sensory neuronopathy. | | - | axonal sensorimotor polyneuropathy | |
| | n/a | 75 | n/a | | 438 | G848S1
| T251I
| CPEO, multiple mtDNa deletions. | | | n/a | 45 | n/a | | 439 | W748S5
| A467T2
| R-EPC (refractory epilepsia partialis continua), axonal neuropathy, cerebellar ataxia, hyperintensity of rolandic, occipital and cerebellar cortex and dentate nucleus. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | n/a | 17 | n/a | | 440 | T914P1
| W748S5
| Refractory generalized epilepsy with status epilepticus, hepatic cholestasis and cytolysis, proximal tubulopathy, hyperintensity of thalamus. mtDNA depletion. | | | n/a | 6 | n/a | | 441 | W748S5
| W748S5
| Parkinsonism, multiple mtDNA deletions. SANDO, Sensory ataxic neuropathy dysarthria and ophtalmoparesis. | | | n/a | 37 | n/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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