|
68 patient data entries in database for mutations W748S and W748S. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 156 | W748S5
| W748S5
| reported as Alpers, onset at 16 years, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 108% mtDNA copy number in muscle. | | - | movement disorder (ataxia) | |
| | 16 | n/a | n/a | Ashley et al, 2008; [view data] | | 157 | W748S5
| W748S5
| cerebellar ataxia, dysarthria/dysphagia, sensory neuropathy, PEO, epilepsy, moderate cerebellar atrophy. | | - | movement disorder (ataxia) | |
| | 22 | n/a | n/a | Schulte et al, 2009; [view data] | | 158 | W748S5
| W748S5
| Ataxia, peripheral neuropathy, exercise intolerance, easy fatigueability, cerebellar atrophy, abnormal MRI. 82% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| | n/a | 30 | n/a | Tang et al, 2011; [view data] | | 162 | W748S5
S28C
| W748S5
| Headaches/migraines, ataxia, peripheral neuropathy, exercise intolerance, ophthalmoporesis/CPEO, abnormal EMG/NCV, ptosis, constipation, pseudo-obstruction, hearing loss, abnormal BAERS. 83% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| | n/a | 25 | n/a | Tang et al, 2011; [view data] | | 168 | W748S5
E1143G
| W748S5
E1143G
| Onset 33 years with neuropathy, myopathy, SANDO, lactic acidosis, PEO. | | | 33 | n/a | n/a | Wong et al, 2008; [view data] | | 278 | W748S5
E1143G
| W748S5
E1143G
| Stiffness, cramping of the lower extremities, foot numbness, and poor balance. The past medical history was significant for hypogonadotropic hypogonadism diagnosed 10 years prior. ophthalmoplegia without ptosis, mild lower proximal weakness, Multiple mtDNA deletions detected by PCR in muscle | | | 32 | 33 | n/a | Milone et al, 2011; [view data] | | 279 | W748S5
E1143G
| W748S5
E1143G
| progressive unsteadiness,limb paresthesias, dysarthria, dysphagia, and weakness, ophthalmoparesis,dysarthria, palatal tremor, moderate axial and appendicular ataxia, and distal pan-modality sensory loss | | - | movement disorder (ataxia) | |
| | 32 | 33 | n/a | Milone et al, 2011; [view data] | | 343 | W748S5
| W748S5
| ataxia, sensory neuropathy, dysarthria, and external ophthalmoparesis | | - | movement disorder (ataxia) | |
| | 30 | 51 | n/a | Pelayo-Negro et al, 2012; [view data] | | 347 | W748S5
S28C
| W748S5
| migraine, ptosis, PEO, exercise intolerance, sensorimotor peripheral neuropathy, ataxia, pseudoobstruction, constipation, and sensorineural hearing loss, | | - | movement disorder (ataxia) | |
| | n/a | 25 | n/a | Tang et al, 2012; [view data] | | 365 | W748S5
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 | | - | movement disorder (ataxia) | |
| | 16 | 37 | n/a | Hakonen et al, 2005; [view data] | | 366 | W748S5
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 | | - | movement disorder (ataxia) | |
| | 28 | 51 | n/a | Hakonen et al, 2005; [view data] | | 367 | W748S5
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. | | - | movement disorder (ataxia) | |
| | 5 | n/a | 35 | Hakonen et al, 2005; [view data] | | 368 | W748S5
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) | |
| | 32 | 46 | n/a | Hakonen et al, 2005; [view data] | | 369 | W748S5
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 | | - | movement disorder (ataxia) | |
| | 19 | 44 | n/a | Hakonen et al, 2005; [view data] | | 370 | W748S5
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) | |
| | 27 | 42 | n/a | Hakonen et al, 2005; [view data] | | 371 | W748S5
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) | |
| | 27 | 38 | n/a | Hakonen et al, 2005; [view data] | | 372 | W748S5
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) | |
| | 41 | 58 | n/a | Hakonen et al, 2005; [view data] | | 373 | W748S5
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) | |
| | 36 | 51 | n/a | Hakonen et al, 2005; [view data] | | 374 | W748S5
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) | |
| | 38 | 44 | n/a | Hakonen et al, 2005; [view data] | | 375 | W748S5
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 | | - | movement disorder (ataxia) | |
| | 17 | 45 | n/a | Hakonen et al, 2005; [view data] | | 376 | W748S5
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 | | - | movement disorder (ataxia) | |
| | 23 | 45 | n/a | Hakonen et al, 2005; [view data] | | 377 | W748S5
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 | | - | movement disorder (ataxia) | |
| | 38 | 51 | n/a | Hakonen et al, 2005; [view data] | | 378 | W748S5
E1143G
| W748S5
E1143G
| Onset with epilepsy, Gait and limb ataxia, Epilepsy, Dysarthria, Nystagmus, diplopia, Psychiatric symptoms, Obesity, sensory motor polyneuropathy | | - | movement disorder (ataxia) | |
| | 24 | 55 | n/a | Hakonen et al, 2005; [view data] | | 390 | W748S5
E1143G
| W748S5
E1143G
| Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, myoclonus, neuropathy. Sodium valproate treatment 3 months prior to death. Liver dysfunction and rising liver enzymes and bilirubin terminally, cause of death status epilepticus and multi-organ failure. Acute liver necrosis | | - | movement disorder (ataxia) | |
| | 8 | n/a | 9 | Tzoulis et al, 2006; [view data] | | 391 | W748S5
E1143G
| W748S5
E1143G
| Presented with speech delay, ataxia, epilepsy, status epilepticus, and headaches. Liver dysfunction and rising liver enzymes and bilirubin terminally, cause of death status epilepticus, multi-organ failure. Hepatic histology showed marked steatosis. | | - | movement disorder (ataxia) | |
| | 8 | n/a | 9 | Tzoulis et al, 2006; [view data] | | 392 | W748S5
E1143G
| W748S5
E1143G
| Presented with epilepsy, status epilepticus, nystagmus, neuropathy | | | 17 | 18 | n/a | Tzoulis et al, 2006; [view data] | | 393 | W748S5
E1143G
| W748S5
E1143G
| Presented with progressive gait unsteadiness, ataxia, epilepsy, status epilepticus, headaches, myoclonus, neuropathy, ptosis/ PEO onset age 30. Mild liver dysfunction. Cause of death status epilepticus. | | - | movement disorder (ataxia) | |
| | 4 | n/a | 30 | Tzoulis et al, 2006; [view data] | | 394 | W748S5
E1143G
| W748S5
E1143G
| Presented with epilepsy, ataxia, status epilepticus, headaches, nystagmus, myoclonus, neuropathy, treatment with sodium valproate for 2 months, died 3 years later due to status epilepticus, disseminated intravascular coagulation, liver failure. | | - | movement disorder (ataxia) | |
| | 10 | n/a | 22 | Tzoulis et al, 2006; [view data] | | 395 | W748S5
E1143G
| W748S5
E1143G
| Presented with progressive gait unsteadiness and headaches, ataxia, epilepsy, status epilepticus, nystagmus, neuropathy. Died 2 months after treatment with sodium valproate, cause of death status epilepticus | | - | movement disorder (ataxia) | |
| | 15 | n/a | 57 | Tzoulis et al, 2006; [view data] | | 396 | W748S5
E1143G
| W748S5
E1143G
| Presented with migraine like headaches, ataxia, nystagmus, neuropathy, PEO/ Ptosis onset age >30 | | - | movement disorder (ataxia) | |
| | 12 | 38 | n/a | Tzoulis et al, 2006; [view data] | | 397 | W748S5
E1143G
| W748S5
E1143G
| Presented with epilepsy, ataxia, status epilepticus, headaches, myoclonus, neuropathy | | - | movement disorder (ataxia) | |
| | 18 | 19 | n/a | Tzoulis et al, 2006; [view data] | | 398 | W748S5
E1143G
| W748S5
E1143G
| Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, neuropathy | | - | movement disorder (ataxia) | |
| | 17 | 27 | n/a | Tzoulis et al, 2006; [view data] | | 399 | W748S5
E1143G
| W748S5
E1143G
| Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, myoclonus, neuropathy, ptosis/ PEO onset at age 26 | | - | movement disorder (ataxia) | |
| | 17 | 38 | n/a | Tzoulis et al, 2006; [view data] | | 400 | W748S5
E1143G
| W748S5
E1143G
| Presented with epilepsy, ataxia, status epilepticus, headaches, myoclonus, neuropathy, ptosis/ PEO onset at age 28. Acute liver failure after 4 months of sodium valproate treatment | | - | movement disorder (ataxia) | |
| | 19 | 33 | n/a | Tzoulis et al, 2006; [view data] | | 410 | W748S5
| W748S5
| Presented with focal epileptic seizures, external ophthalmoplegia and gait unsteadiness. At age 28, during her first pregnancy, she was admitted with focal epileptic seizures that were highly resistant to treatment. Two months later her symptoms worsened and included myoclonic jerks in the extremities and facial dyskinesias. Treatment with sodium valproate resulted in acute severe hepatic failure and she underwent a successful liver transplantation. At 35 mild cognitive deficit, cerebellar dysarthria, palatal tremor, facial dyskinesias, myoclonus, cerebellar and sensory ataxia and signs of peripheral neuropathy with loss of reflexes and sensory disturbance were also present | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 19 | 35 | n/a | Johansen et al, 2008; [view data] | | 414 | W748S5
E1143G
| W748S5
E1143G
| patient noticed gait and balance difficulties at age 46 years, ataxia, CPEO, cortical and cerebellar atrophy, axonal sensory polyneuropathy, Symmetrical bradykinesia and rigidity, mild tremor, paranoid delusions, During the last 2 years of life he had marked rigidity, dysphagia, myoclonic jerks and dystonia | | - | movement disorder (ataxia) | |
| | 46 | 65 | n/a | Remes et al, 2008; [view data] | | 415 | W748S5
E1143G
| W748S5
E1143G
| Headache, visual symptoms, migraine-like headache, Athetosis, nystagmus, emiparesis, valproic acid induced Liver failure, sepsis, pancreatitis, status epilepticus | | | 14 | 15 | n/a | Uusimaa et al, 2008; [view data] | | 416 | W748S5
E1143G
| W748S5
E1143G
| Seizures, status epilepticus, visual symptoms, nystagmus, valproic acid induced liver failure | | | 17 | 21 | n/a | Uusimaa et al, 2008; [view data] | | 417 | W748S5
E1143G
| W748S5
E1143G
| Migraine like headaches, visual symptoms, focal generalized seizures, severe liver failure, valproate induced liver failure | | | 15 | n/a | 20 | Uusimaa et al, 2008; [view data] | | 441 | W748S5
| W748S5
| Parkinsonism, multiple mtDNA deletions. SANDO, Sensory ataxic neuropathy dysarthria and ophtalmoparesis. | | | 37 | n/a | n/a | Rouzier et al, 2013; [view data] | | 452 | W748S5
E1143G
| W748S5
E1143G
| developed gait disturbance by the age of 35, progressing to increasing clumsiness in lower extremities, dysarthria, diplopia, and occasional amnesia at the age of 44. She developed ataxia, slight polyneuropathy, and external ophthalmoplegia. At the age of 46 she had slightly increased plasma creatine kinase levels and symmetrical cerebellar peduncular white matter signal intensity increase in brain MRI. The first epileptic seizure, requiring treatment by general anesthesia, oc- curred at the age of 55, after which she was hospitalized permanently. From her 30's, she received psychiatric care due to anxiety and depression. A neuropsychological examination revealed decrease in visual reasoning and memory functions. She deceased at the age of 56 due to pneumonia and pulmonary embolism. | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 35 | n/a | 56 | Palin et al, 2012; [view data] | | 454 | W748S5
E1143G
| W748S5
E1143G
| Gait disturbance since childhood. Early onset suggested anticipation. In his 20's he developed photophobia and general clumsiness and benign paroxysmal positional vertigo. From the age of 37 he has had unspecific sensory polyneuropathy, confirmed by electromyography. He had several simple partial seizures at the age of 39, and has mild anxiety and depression. | | - | movement disorder (ataxia) | |
| | 5 | 41 | n/a | Palin et al, 2012; [view data] | | 462 | W748S5
| W748S5
| Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO). | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 6 | n/a | 41 | Tzoulis et al, 2013; [view data] | | 463 | W748S5
| W748S5
| Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO). | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 17 | n/a | 43 | Tzoulis et al, 2013; [view data] | | 464 | W748S5
| W748S5
| Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy. | | - | movement disorder (ataxia) | |
| | 17 | 34 | n/a | Tzoulis et al, 2013; [view data] | | 465 | W748S5
| W748S5
| Ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO). | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 12 | 45 | n/a | Tzoulis et al, 2013; [view data] | | 466 | W748S5
| W748S5
| Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO). | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 12 | n/a | 28 | Tzoulis et al, 2013; [view data] | | 467 | W748S5
| W748S5
| Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO). | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 16 | n/a | 24 | Tzoulis et al, 2013; [view data] | | 538 | W748S5
| W748S5
| Ataxia, neuropathy, PEO, MIRAS. | | - | movement disorder (ataxia) | |
| | n/a | 36 | n/a | Sitarz et al, 2014; [view data] | | 548 | W748S5
| W748S5
| Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO | | - | movement disorder (ataxia) | |
| | 6 | n/a | 41 | Tzoulis et al, 2014; [view data] | | 549 | W748S5
| W748S5
| Epilepsy, stroke-like episode, Ataxia, Neuropathy | | - | movement disorder (ataxia) | |
| | 15 | n/a | 24 | Tzoulis et al, 2014; [view data] | | 550 | W748S5
| W748S5
| Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO. | | - | movement disorder (ataxia) | |
| | 17 | n/a | 43 | Tzoulis et al, 2014; [view data] | | 551 | W748S5
| W748S5
| Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO. | | - | movement disorder (ataxia) | |
| | 12 | n/a | 28 | Tzoulis et al, 2014; [view data] | | 552 | W748S5
| W748S5
| Epilepsy, stroke-like episode, Ataxia, Neuropathy. | | - | movement disorder (ataxia) | |
| | 2 | n/a | 13 | Tzoulis et al, 2014; [view data] | | 553 | W748S5
| W748S5
| Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO. | | - | movement disorder (ataxia) | |
| | 16 | n/a | 24 | Tzoulis et al, 2014; [view data] | | 554 | W748S5
| W748S5
| Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO. | | - | movement disorder (ataxia) | |
| | 15 | n/a | 57 | Tzoulis et al, 2014; [view data] | | 575 | W748S5
| W748S5
| PEO, epilepsy, early-onset cerebellar ataxia. Dysarthria, sensory neuropathy, Cerebellar atrophy. | | - | movement disorder (ataxia) | |
| | 22 | n/a | n/a | Schicks et al, 2010; [view data] | | 580 | W748S5
| W748S5
| early-onset ataxia, epilepsy, sensory neuropathy. | | - | movement disorder (ataxia) | |
| | 12.5 | n/a | n/a | Schicks et al, 2010; [view data] | | 581 | W748S5
| W748S5
| Dystonia of both arms, with predominant dystonic ulnar deviation of the right upper limb with jerky wrist and finger movements. Also her feet show unpatterend jerky movements, which may be classified as myoclonus but are also similar to limb movements in benign hereditary chorea. external ophthalmoplegia, slowing of voluntary saccades and gait ataxia started. | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 33 | n/a | n/a | Synofzik et al, 2010; [view data] | | 582 | W748S5
| W748S5
| dystonic ulnar deviation of the left upper limb with distal predominance. She showed intermittent facial and jaw opening dystonia. At rest, she had marked postural instability caused by trunk ataxia, which is aggravated by motor actions like e.g. lifting the upper limbs. severe dysarthria, incomplete horizontal and vertical external ophthalmoplegia and ataxia were observed as clinical features of MIRAS. Patient 2 was only able to stand assisted for a few seconds. | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 40 | n/a | n/a | Synofzik et al, 2010; [view data] | | 593 | W748S5
Q497H2
E1143G
| W748S5
Q497H2
E1143G
| Ataxia, sensory ataxia, dysarthria, nystagmus, cognitive dysfunction, axonal neuropathy, demyelinating neuropathy. This man presented at age 26 with unsteadiness. Examination showed an ataxic gait, cerebellar dysarthria, myoclonic jerks of his head and facial muscles, mild limitation of horizontal eye movement, and horizontal nystagmus in the direction of gaze, with an additional vertical element when looking down. There were distal amyotrophy, absent reflexes in the legs, and a symmetric loss of all sensory modalities below the knee. Romberg’s test was positive. Episodes of depression. At age 31 he has an almost complete ophthalmoplegia, cerebellar dysarthria, myoclonus involving face and arms, truncal ataxia, and symmetric dysmetria. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 23 | 38 | n/a | Winterthun et al, 2005; [view data] | | 594 | W748S5
Q497H2
E1143G
| W748S5
Q497H2
E1143G
| Headaches, a focal epilepsy with secondary generalisation, occipital epilepsy, dysarthria, nystagmus, cognitive dysfunction. Demyelinating neuropathy, axonal neuropathy. headaches preceded by visual symptoms, nausea, vomiting, and unsteadiness diagnosed as migraine. Shortly after, she had the first of a series of tonic-clonic seizures preceded by headache. Examination showed horizontal and vertical nystagmus, gait ataxia. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 15 | 18 | n/a | Winterthun et al, 2005; [view data] | | 617 | W748S5
E1143G
| W748S5
E1143G
| plurimetabolic syndrome. At age 30 years, he noted disturbed balance, and ataxia and severe axonal neuropathy were diagnosed. On examination at age 32 years, he had slowed ocular pursuit movements but with full range of motion. He had severe gait ataxia, imbalance, and trunk ataxia, as well as clumsiness of the hands. Achilles tendon reflexes were absent. dysarthria, obesity, chronic motor axonopathy, moderate sensory neuropathy at the upper limbs, mild neurogenic atrophy. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 30 | 33 | n/a | Van Goethem et al, 2004; [view data] | | 656 | W748S5
| W748S5
| A 30-year-old man with sensorineural hearing loss presented with subacute somnolence, slurred speech, and unsteady gait following treatment with peginterferon a-2b and ribavirin for chronic hepatitis C virus. Examination revealed scanning speech, horizontal nystagmus, gait ataxia, and symmetric hyporeflexia with distal sensory loss. Bilateral hypertrophic olivary degeneration. | | - | movement disorder (ataxia) | |
| | n/a | 30 | n/a | Arkadir et al, 2015; [view data] | | 668 | W748S5
| W748S5
| a unique combination of lesions in the thalamus, cerebellum and inferior olivary nucleus. ataxia, dysarthria, external ophthalmoparesis, generalized areflexia, abnormal leg pallesthesia, wide-based gait, positive, Romberg test, dysmetria, and a predominantly left dysdiadochokinesia. distal sensorimotor neuropathy. | | - | movement disorder (ataxia) | |
| | 24 | 29 | n/a | Henao et al, 2016; [view data] | | 670 | W748S5
| W748S5
| progressive balance difficulties, impaired gait and coordination (ataxia), slurred speech, diplopia, and hypoacusis, insidious cognitive decline, esophoria. Upon exam, signs of both cerebellar and sensory ataxia (positive Romberg’s sign) as well as chorea, myoclonus, areflexia, and complete loss of vibration sense were found. Bradykinesia and marked postural instability. Eye examination revealed broken up smooth pursuit, nystagmus, mild dysconjugation of lateral eye movements, hypometric saccades and partial restriction of vertical gaze. Psychometric evaluation revealed deficits in information processing speed, working memory, attention, and visuospatial skills. A mild sensorineuronal hearing loss. | | - | movement disorder (ataxia) | |
| | 48 | 60 | n/a | Paucar et al, 2016; [view data] | | 672 | W748S5
E1143G
| W748S5
| Focal seizures with left visual field symptoms and motor signs. Neurological examination disclosed PEO, dysarthria, decreased reflexes, loss of proprioception distally in the legs, discrete pyramidal signs and appendicular ataxia on the left side with an ataxic gait. Mild cognitive decline was present. infratentorial white matter lesions, axonal polyneuropathy. negative myoclonus. | | - | movement disorder (ataxia) | |
| - | axonal sensorimotor polyneuropathy | |
| | 26 | 28 | 33.5 | Janssen et al, 2016; [view data] | | 675 | W748S5
| W748S5
| He presented with two focal seizures with jerking of the right arm and leg. Brain imaging showed a T2-hyperintense lesion in the left frontal lobe. Focal status epilepticus characterized by visual hallucinations in the left visual fields. An appendicular ataxia, nystagmus and areflexia. His level of consciousness deteriorated, evolving into a refractory subtle SE. The patient died eventually after 5 months of continuous epileptic activity due to a septic shock. | | - | movement disorder (ataxia) | |
| | 17 | 20 | 20 | 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: 68
Number of patient cases marked as outliers: 1 (cases excluded from avg: 552)
Avg age of onset in displayed cases: 21.9
Std dev in onset in displayed cases: 10.5
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