Home Query References Browse Contact

16 patient data entries collated from reference Rouzier et al, 2013.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
425K768E2
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)
-sensory ataxia
-polyneuropathy
-axonal sensorimotor polyneuropathy
-muscle weakness
-cox-negative
-areflexia
childhood
535n/a
426S1080I3
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.
-status epilepticus
-headache/ migraine
childhood
888
427S1080I3
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.
-hemiparesis
-epilepsia partialis
-cerebellar ataxia
-movement disorder (ataxia)
-ptosis
-headache/ migraine
-cortical blindness
childhood
88n/a
428Indel:
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.
-status epilepticus
-epilepsia partialis
-encephalopathy
infantile
42n/a
429A467T2
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%).
-respiratory deficiency
adult
565660
430P1073L3
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.
-epilepsy
-muscle weakness
-myopathy
-renal tubulopathy
childhood
n/a5n/a
431R1187W1
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.
-myopathy
-liver failure
-psychomotor delay
-cholestasis
juvenile
n/a14n/a
433R232H4
Axonal sensorimotor neuropathy, sensory ataxia, parkinsonism.
-movement disorder (ataxia)
-sensory ataxia
-axonal sensorimotor polyneuropathy
-parkinson's disease
adult
n/a25n/a
434R232H4
Axonal sensorimotor neuropathy
-axonal sensorimotor polyneuropathy
adult
n/a30n/a
435R232H4
Axonal sensorimotor neuropathy, sensory ataxia. Very mild axonal neuropathy identified in this patient's daughter.
-movement disorder (ataxia)
-sensory ataxia
-demyelinating neuropathy
-axonal sensorimotor polyneuropathy
adult
n/a20n/a
436D1184N1
CPEO, axonal sensory neuronopathy, parkinsonism. late-onset CPEO with a sensory neuropathy and a Parkinsonian syndrome.
-axonal sensorimotor polyneuropathy
-PEO
-parkinson's disease
adult
n/a70n/a
437D1184N1
CPEO, axonal sensory neuronopathy.
-axonal sensorimotor polyneuropathy
-PEO
adult
n/a75n/a
438G848S1
T251I
CPEO, multiple mtDNa deletions.
-PEO
adult
n/a45n/a
439W748S5
A467T2
R-EPC (refractory epilepsia partialis continua), axonal neuropathy, cerebellar ataxia, hyperintensity of rolandic, occipital and cerebellar cortex and dentate nucleus.
-epilepsia partialis
-cerebellar ataxia
-movement disorder (ataxia)
-demyelinating neuropathy
juvenile
n/a17n/a
440T914P1
W748S5
Refractory generalized epilepsy with status epilepticus, hepatic cholestasis and cytolysis, proximal tubulopathy, hyperintensity of thalamus. mtDNA depletion.
-status epilepticus
-epilepsy
-cholestasis
childhood
n/a6n/a
441W748S5
W748S5
Parkinsonism, multiple mtDNA deletions. SANDO, Sensory ataxic neuropathy dysarthria and ophtalmoparesis.
-sensory ataxia
-parkinson's disease
-dysarthria
adult
n/a37n/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.

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Reference:

References in full format are accessible through the references page.

:.: Privacy Statement :.: Disclaimer :.: Contact Information :.: