PMC:5097349 / 12555-14301
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/5097349","sourcedb":"PMC","sourceid":"5097349","source_url":"https://www.ncbi.nlm.nih.gov/pmc/5097349","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 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