Neurology
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Administrative health data are frequently used for large population-based studies. However, the validity of these data for identifying neurologic conditions is uncertain. ⋯ To ensure the accurate interpretation of population-based studies with use of administrative health data, the accuracy of case definitions for neurologic conditions needs to be taken into consideration.
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To describe the phenotype of patients with C9FTD/ALS (C9ORF72) hexanucleotide repeat expansion. ⋯ Patients with the C9ORF72 hexanucleotide repeat expansion develop bvFTD, ALS, or FTD-MND with similar clinical and imaging features to sporadic cases. Other FTD spectrum diagnoses and AD dementia appear rare or absent among C9+ individuals. Longer survival in C9+ FTD-MND suggests slower disease progression and thalamic atrophy represents a novel and unexpected feature.
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Multicenter Study
Dynamics of obesity paradox after stroke, related to time from onset, age, and causes of death.
Paradoxical longevity in obese patients with established disease has been documented in various conditions. We aimed to find whether such a relationship exists in ischemic stroke patients, with stratified analyses according to time of death after stroke, age, and cause of death. ⋯ Our results documented obesity paradox in stroke survivors, regardless of age and causes of death, and it became evident a sufficient time after stroke onset.
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Acute cerebral infarction may coexist with hypertensive intracerebral hemorrhage (ICH) because lacunae and hypertensive ICH share common risk factors and small-vessel pathology. We sought to determine the frequency and predictors of new ischemic lesions (NIL) on diffusion-weighted imaging (DWI), in patients with acute hypertensive ICH, and to investigate whether NIL predicts subsequent clinical cerebrovascular events. ⋯ NILs frequently occur during the acute phase of ICH and are mainly associated with small-vessel pathogenesis. NILs occurring together with ICH may be a useful marker to identify patients at high risk of future clinical cerebrovascular events or vascular death.
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To assess the frequency and phenotype of hexanucleotide repeat expansions in C9ORF72 in a large cohort of patients of Dutch descent with familial (fALS) and sporadic (sALS) amyotrophic lateral sclerosis (ALS), progressive muscular atrophy (PMA), and primary lateral sclerosis (PLS). ⋯ The hexanucleotide repeat expansion in C9ORF72 is a major cause of fALS and apparently sporadic ALS in the Netherlands. Patients who carry the repeat expansion have an earlier onset, shorter survival, and familial aggregation of dementia. These results challenge the classic definition of fALS and may justify genetic testing in patients with sALS.