PMC:5097349 / 12555-14301 JSONTXT

{"project":"AxD_symptoms","denotations":[{"id":"T65","span":{"begin":760,"end":784},"obj":"Phenotype"},{"id":"T66","span":{"begin":1586,"end":1600},"obj":"Phenotype"}],"attributes":[{"id":"A65","pred":"hp_id","subj":"T65","obj":"http://purl.obolibrary.org/obo/HP_0002500"},{"id":"A66","pred":"hp_id","subj":"T66","obj":"http://purl.obolibrary.org/obo/HP_0002415"}],"text":"Beside, asymptomatic carriers with MRI abnormalities have been described in some reports [2, 6, 8, 18–23]. Here we listed several asymptomatic carriers similar to our patient’s daughter who had abnormal brain MRI and carrying the gene mutation (see Table 2).\nTable 2 The information of asymptomatic carriers with MRI abnormalities\nPatient Reference Gender Age (years) MRI scan Nucleotide change Aminoacid substitution\nPatient 1 [18] Male 62 Mild cervicomedullary atrophy c.232G \u003e A p.D78N\nPatient 2 [6] Male 32 Atrophy of medulla oblongata and spinal cord, Periventricular rim c. 274 T \u003e G p.V87G\nPatient 3 [19] Male 33 Atrophy of medulla oblongata and spinal cord, white matter lesion, periventricular rim c. 274 T \u003e G p.V87G\nPatient 4 [20] Male a\u003c4 Frontal white matter abnormality c.276C \u003e T p.R88C\nPatient 5 [2] Male 30 Supratentorial periventricular white matter, atrophy of medulla oblongata and cervical cord c.613G \u003e A p.E205K\nPatient 6 [21] Male 32 Periventricular rim, atrophy of medulla c.988C \u003e G p.R330G\nc.994G \u003e A p.E332K\nPatient 7 [22] Female 34 Mild abnormal intensities in the deep frontal white matter and caudates c.1006 T \u003e C p.L331P\nPatient 8 [23] Male 72 Atrophy of the upper cervical cord medullaoblongata and cerebellar c.1157A \u003e G p.N386S\nPatient 9 [8] Male 52 Supratentorial periventricular white matter, atrophy of medulla oblongata and cervical cord c. 1193C \u003e A p.S398Y\nPatient 10 [20] Male a\u003c11 White matter of the cerebellum, medulla, pons changes c.1260C \u003e T p.R416W\nc.154C \u003e T p.P47L\naNo age at onset is reported for Patients 4 and 10; evaluation for leukodystrophy was initiated only after incidental findings of white matter changes were discovered by MRI performed as part of examination for other conditions"}

{"project":"2_test","denotations":[{"id":"27814755-18684770-12819188","span":{"begin":90,"end":91},"obj":"18684770"},{"id":"27814755-11867077-12819189","span":{"begin":93,"end":94},"obj":"11867077"},{"id":"27814755-18388212-12819190","span":{"begin":96,"end":97},"obj":"18388212"},{"id":"27814755-23743246-12819191","span":{"begin":99,"end":101},"obj":"23743246"},{"id":"27814755-20849398-12819191","span":{"begin":99,"end":101},"obj":"20849398"},{"id":"27814755-12034785-12819191","span":{"begin":99,"end":101},"obj":"12034785"},{"id":"27814755-18004641-12819191","span":{"begin":99,"end":101},"obj":"18004641"},{"id":"27814755-15465095-12819191","span":{"begin":99,"end":101},"obj":"15465095"},{"id":"27814755-25982497-12819191","span":{"begin":99,"end":101},"obj":"25982497"},{"id":"27814755-23743246-12819192","span":{"begin":429,"end":431},"obj":"23743246"},{"id":"27814755-11867077-12819193","span":{"begin":500,"end":501},"obj":"11867077"},{"id":"27814755-20849398-12819194","span":{"begin":608,"end":610},"obj":"20849398"},{"id":"27814755-12034785-12819195","span":{"begin":738,"end":740},"obj":"12034785"},{"id":"27814755-18684770-12819196","span":{"begin":814,"end":815},"obj":"18684770"},{"id":"27814755-18004641-12819197","span":{"begin":947,"end":949},"obj":"18004641"},{"id":"27814755-15465095-12819198","span":{"begin":1048,"end":1050},"obj":"15465095"},{"id":"27814755-25982497-12819199","span":{"begin":1166,"end":1168},"obj":"25982497"},{"id":"27814755-18388212-12819200","span":{"begin":1276,"end":1277},"obj":"18388212"},{"id":"27814755-12034785-12819201","span":{"begin":1412,"end":1414},"obj":"12034785"}],"text":"Beside, asymptomatic carriers with MRI abnormalities have been described in some reports [2, 6, 8, 18–23]. Here we listed several asymptomatic carriers similar to our patient’s daughter who had abnormal brain MRI and carrying the gene mutation (see Table 2).\nTable 2 The information of asymptomatic carriers with MRI abnormalities\nPatient Reference Gender Age (years) MRI scan Nucleotide change Aminoacid substitution\nPatient 1 [18] Male 62 Mild cervicomedullary atrophy c.232G \u003e A p.D78N\nPatient 2 [6] Male 32 Atrophy of medulla oblongata and spinal cord, Periventricular rim c. 274 T \u003e G p.V87G\nPatient 3 [19] Male 33 Atrophy of medulla oblongata and spinal cord, white matter lesion, periventricular rim c. 274 T \u003e G p.V87G\nPatient 4 [20] Male a\u003c4 Frontal white matter abnormality c.276C \u003e T p.R88C\nPatient 5 [2] Male 30 Supratentorial periventricular white matter, atrophy of medulla oblongata and cervical cord c.613G \u003e A p.E205K\nPatient 6 [21] Male 32 Periventricular rim, atrophy of medulla c.988C \u003e G p.R330G\nc.994G \u003e A p.E332K\nPatient 7 [22] Female 34 Mild abnormal intensities in the deep frontal white matter and caudates c.1006 T \u003e C p.L331P\nPatient 8 [23] Male 72 Atrophy of the upper cervical cord medullaoblongata and cerebellar c.1157A \u003e G p.N386S\nPatient 9 [8] Male 52 Supratentorial periventricular white matter, atrophy of medulla oblongata and cervical cord c. 1193C \u003e A p.S398Y\nPatient 10 [20] Male a\u003c11 White matter of the cerebellum, medulla, pons changes c.1260C \u003e T p.R416W\nc.154C \u003e T p.P47L\naNo age at onset is reported for Patients 4 and 10; evaluation for leukodystrophy was initiated only after incidental findings of white matter changes were discovered by MRI performed as part of examination for other conditions"}