PMC:3654953 / 2651-3407 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/3654953","sourcedb":"PMC","sourceid":"3654953","source_url":"https://www.ncbi.nlm.nih.gov/pmc/3654953","text":"We here report the results of exome next-generation DNA sequencing (NGS) conducted on a family with two maternal half-siblings, affected by two distinct adult-onset neurological syndromes: mild cognitive deterioration and movement disorder in a female patient, motor-neuron disease (MND) in her half-brother. The two patients shared the same mother, but had different, unrelated fathers, suggesting either an X-linked or an autosomal dominant condition with variable penetrance and expressivity. In spite of the diversity of the clinical features, the brain MRI features were compatible with AOAD. However, standard sequence analysis of the nine canonical exons encoding the predominant isoform, GFAP-α, had previously ruled out mutations in both patients.","tracks":[{"project":"AxD_symptoms","denotations":[{"id":"T6","span":{"begin":222,"end":239},"obj":"Phenotype"}],"attributes":[{"id":"A6","pred":"hp_id","subj":"T6","obj":"http://purl.obolibrary.org/obo/HP_0100022"},{"subj":"T6","pred":"source","obj":"AxD_symptoms"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"AxD_symptoms","color":"#93ddec","default":true}]}]}}