JAMA neurology
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Comparative Study
Frontotemporal dementia associated with the C9ORF72 mutation: a unique clinical profile.
While advances have been made in characterizing the C9ORF72 clinical phenotype, the hallmark features that discriminate between carriers and noncarriers remain unclear. ⋯ The C9ORF72 mutation appears to be a common cause of bvFTD. Many of the C9ORF72 carriers have a family history of ALS or psychiatric illness. Psychotic features emerged as the most discriminating clinical feature between mutation carriers and noncarriers. Progression is often slow and brain atrophy is less pronounced than in nonmutation cases of bvFTD. These findings have clinical relevance for both diagnosis and selection of patients for genetic testing.
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Multicenter Study
Predicting hematoma expansion after primary intracerebral hemorrhage.
Many clinical trials focus on restricting hematoma expansion following acute intracerebral hemorrhage (ICH), but selecting those patients at highest risk of hematoma expansion is challenging. ⋯ A 9-point prediction score for hematoma expansion was developed and independently validated. The results open a path for individualized treatment and trial design in ICH aimed at patients at highest risk of hematoma expansion with maximum potential for therapeutic benefit.
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Multicenter Study Observational Study
Frequency of hematoma expansion after spontaneous intracerebral hemorrhage in children.
Hematoma expansion is the only modifiable predictor of outcome in adult intracerebral hemorrhage; however, the frequency and clinical significance of hematoma expansion after childhood intracerebral hemorrhage are unknown. ⋯ Hematoma expansion occurs in children with intracerebral hemorrhage and may require urgent treatment. Repeat CT should be considered in children with either large hemorrhage or increased intracranial pressure.