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14 patient data entries collated from reference Hakonen et al, 2005.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
365W748S5
E1143G
W748S5
E1143G
Onset with epilepsy, Gait and limb ataxia, Epilepsy, Myoclonus, facial Involuntary movements, Dysarthria, Dysphagia, Nystagmus, other eye-movement abnormalities, Cognitive impairment, Psychiatric symptoms, Muscle strength decreased, Obesity
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-dysphagia
-dysarthria
-nystagmus
juvenile
3716n/a
366W748S5
E1143G
W748S5
E1143G
Onset with headaches, Gait and limb ataxia, Epilepsy, Myoclonus, Involuntary movements, Dysarthria, Dysphagia, Nystagmus, other eye-movement abnormalities, restricted eye movements, ptosis, Cognitive impairment, Psychiatric symptoms, Muscle strength decreased, Obesity
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-ptosis
-headache/ migraine
-dysphagia
-dysarthria
-nystagmus
adult
5128n/a
367W748S5
E1143G
W748S5
E1143G
Onset with tremor, Gait and limb ataxia, Epilepsy, Myoclonus, Involuntary movements, Dysarthria, eye muscle weakness, Cognitive impairment, Psychiatric symptoms, Muscle strength decreased.
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-muscle weakness
-dysarthria
-tremor
childhood
n/a535
368W748S5
E1143G
W748S5
E1143G
Onset with balance disturbances, Gait and limb ataxia, Dysarthria, Dysphagia, Nystagmus, diplopia, Cognitive impairment, Muscle strength decreased, sensory neural hearing deficit, sensory motor polyneuropathy
-movement disorder (ataxia)
-polyneuropathy
-diplopia
-dysphagia
-dysarthria
-nystagmus
adult
4632n/a
369W748S5
E1143G
W748S5
E1143G
Onset with epilepsy, Gait and limb ataxia, Myoclonus, Involuntary movements, Dysarthria, Dysphagia, Nystagmus, other eye-movement abnormalities, Cognitive impairment, Obesity, sensory neural hearing deficit, sensory motor polyneuropathy
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-polyneuropathy
-dysphagia
-dysarthria
-nystagmus
juvenile
4419n/a
370W748S5
E1143G
W748S5
E1143G
Onset with balance disturbances, Gait and limb ataxia, facial Involuntary movements, Dysarthria, Dysphagia, Nystagmus, other eye-movement abnormalities, Psychiatric symptoms, premature menopause, Obesity, sensory motor polyneuropathy
-movement disorder (ataxia)
-polyneuropathy
-dysphagia
-dysarthria
-nystagmus
adult
4227n/a
371W748S5
E1143G
W748S5
E1143G
Onset with balance disturbances and neuropathy, Gait and limb ataxia, tremor, Involuntary movements, Dysarthria, Dysphagia, Nystagmus, restricted eye movements, Psychiatric symptoms, Muscle strength decreased, Obesity, muscle cramps, amyotrophy, pes cavus, sensory motor polyneuropathy
-movement disorder (ataxia)
-polyneuropathy
-dysphagia
-dysarthria
-nystagmus
-tremor
adult
3827n/a
372W748S5
E1143G
W748S5
E1143G
Onset with neuropathy, Gait and limb ataxia, Dysarthria, Dysphagia, other eye-movement abnormalities, Cognitive impairment, Psychiatric symptoms, Obesity, sensory motor polyneuropathy
-movement disorder (ataxia)
-polyneuropathy
-dysphagia
-dysarthria
adult
5841n/a
373W748S5
E1143G
W748S5
E1143G
Onset with neuropathy, Gait and limb ataxia, tremor, Dysarthria, Nystagmus, Psychiatric symptoms, Muscle strength decreased, amyotrophy, pes cavus, sensory motor polyneuropathy
-movement disorder (ataxia)
-polyneuropathy
-dysarthria
-nystagmus
-tremor
adult
5136n/a
374W748S5
E1143G
W748S5
E1143G
Onset with balance disturbances and neuropathy, Gait and limb ataxia, Dysarthria, restricted eye movements, ptosis, Cognitive impairment, Obesity, cramps, sensory motor polyneuropathy
-movement disorder (ataxia)
-polyneuropathy
-ptosis
-dysarthria
adult
4438n/a
375W748S5
E1143G
W748S5
E1143G
Onset with epilepsy, Gait and limb ataxia, Epilepsy, Myoclonus, head tremor, facial Involuntary movements, Dysarthria, Nystagmus, other eye-movement abnormalities, Cognitive impairment, Psychiatric symptoms, cramps
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-dysarthria
-nystagmus
-tremor
juvenile
4517n/a
376W748S5
E1143G
W748S5
E1143G
Onset with epilepsy, Gait and limb ataxia, Epilepsy, Myoclonus, head tremor, Dysarthria, other eye-movement abnormalities, Nystagmus, Cognitive impairment, Psychiatric symptoms, cramps, sensory motor polyneuropathy
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-polyneuropathy
-dysarthria
-nystagmus
-tremor
adult
4523n/a
377W748S5
E1143G
W748S5
E1143G
Onset with balance disturbances and neuropathy, Gait and limb ataxia, Myoclonus, tremor, Dysarthria, restricted eye movements, Cognitive impairment, Psychiatric symptoms, Obesity, sensory motor polyneuropathy
-myoclonic seizures
-movement disorder (ataxia)
-polyneuropathy
-dysarthria
-tremor
adult
5138n/a
378W748S5
E1143G
W748S5
E1143G
Onset with epilepsy, Gait and limb ataxia, Epilepsy, Dysarthria, Nystagmus, diplopia, Psychiatric symptoms, Obesity, sensory motor polyneuropathy
-epilepsy
-movement disorder (ataxia)
-polyneuropathy
-diplopia
-dysarthria
-nystagmus
adult
5524n/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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