|
30 patient data entries in database for clusters W748S and W748S 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 | | | 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] | | 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] | | 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] | | 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] | | 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] | | 617 | E1143G
W748S5
| E1143G
W748S5
| 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] | | 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] | | 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] | | 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] | | 538 | W748S5
| W748S5
| Ataxia, neuropathy, PEO, MIRAS. | | - | movement disorder (ataxia) | |
| | n/a | 36 | n/a | Sitarz et al, 2014; [view data] | | 452 | E1143G
W748S5
| 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] | | 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] | | 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] | | 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] | | 377 | E1143G
W748S5
| E1143G
W748S5
| 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] | | 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] | | 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] | | 373 | E1143G
W748S5
| E1143G
W748S5
| 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] | | 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] | | 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] | | 370 | E1143G
W748S5
| E1143G
W748S5
| 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] | | 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] | | 366 | W748S5
E1143G
| E1143G
W748S5
| 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] | | 347 | S28C
W748S5
| 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] | | 343 | W748S5
| W748S5
| ataxia, sensory neuropathy, dysarthria, and external ophthalmoparesis | | - | movement disorder (ataxia) | |
| | 30 | 51 | n/a | Pelayo-Negro et al, 2012; [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] | | 278 | E1143G
W748S5
| E1143G
W748S5
| 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] | | 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] | | 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] | | 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] |
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: 30
Avg age of onset in displayed cases: 31.7
Std dev in onset in displayed cases: 6.7
|