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To establish the consistency of the previously reported pattern of muscle involvement in a large cohort of patients with molecularly defined ryanodine receptor type 1 (RYR1)-related myopathies, to identify possible additional patterns, and to compare magnetic resonance imaging (MRI) findings with clinical and genetic findings. Design: Blinded analysis of muscle MRI patterns of patients with congenital myopathies with dominant or recessive RYR1 mutations and control patients without RYR1 mutations. We compared MRI findings with the previously reported pattern of muscle involvement. Setting: Data from 3 tertiary referral centers. Patients: Thirty-seven patients with dominant or recessive RYR1 mutations and 23 controls with other myopathies. Main Outcome Measures: Each MRI was classified as typical if it was identical to the reported pattern, consistent if it was similar to the reported one but with some additional features, or different. Images with no or few changes were classified as uninformative. Results: Twenty-one of 37 patients with RYR1 mutations had a typical pattern; 13 had a consistent pattern. Two patients had uninformative MRIs and only 1 had a different pattern. Compared with patients with dominant mutations, patients with recessive mutations and ophthalmoparesis had a more diffuse pattern, classified as consistent in 6 of 8. In contrast, 10 of 11 with recessive mutations but without ophthalmoparesis had a typical pattern. All MRIs of 23 control patients were classified as different. Conclusions: Our results suggest that muscle MRI is a powerful predictor of RYR1 involvement in patients with a congenital myopathy, especially if they carry a dominant mutation or recessive mutations without ophthalmoparesis.
To establish the consistency of the previously reported pattern of muscle involvement in a large cohort of patients with molecularly defined ryanodine receptor type 1 (RYR1)-related myopathies, to identify possible additional patterns, and to compare magnetic resonance imaging (MRI) findings with clinical and genetic findings. Design: Blinded analysis of muscle MRI patterns of patients with congenital myopathies with dominant or recessive RYR1 mutations and control patients without RYR1 mutations. We compared MRI findings with the previously reported pattern of muscle involvement. Setting: Data from 3 tertiary referral centers. Patients: Thirty-seven patients with dominant or recessive RYR1 mutations and 23 controls with other myopathies. Main Outcome Measures: Each MRI was classified as typical if it was identical to the reported pattern, consistent if it was similar to the reported one but with some additional features, or different. Images with no or few changes were classified as uninformative. Results: Twenty-one of 37 patients with RYR1 mutations had a typical pattern; 13 had a consistent pattern. Two patients had uninformative MRIs and only 1 had a different pattern. Compared with patients with dominant mutations, patients with recessive mutations and ophthalmoparesis had a more diffuse pattern, classified as consistent in 6 of 8. In contrast, 10 of 11 with recessive mutations but without ophthalmoparesis had a typical pattern. All MRIs of 23 control patients were classified as different. Conclusions: Our results suggest that muscle MRI is a powerful predictor of RYR1 involvement in patients with a congenital myopathy, especially if they carry a dominant mutation or recessive mutations without ophthalmoparesis.
Key Points Question Which cognitive measure among global cognition, memory, processing speed, and verbal fluency is most useful in assessing risk of future dementia when combined with gait decline? Findings In this cohort study of 16 855 relatively healthy older people in Australia and the US, a dual decline in gait and cognitive function compared with nondecliners was significantly associated with increased risk of dementia. This risk was highest in those with both gait and memory decline. Meaning These results highlight the importance of gait in dementia risk assessment and suggest that dual decline in gait speed and a memory measure may be the best combination to assess future dementia.
IMPORTANCE Seizures recur in as many as half of patients who undergo surgery for drug-resistant temporal lobe epilepsy (TLE). Understanding why TLE is resistant to surgery in some patients may reveal insights into epileptogenic networks and direct new therapies to improve outcomes. OBJECTIVE To characterize features of surgically refractory TLE. DESIGN, SETTING, AND PARTICIPANTS Medical records from a comprehensive epilepsy center were retrospectively reviewed for 131 patients who received a standard anteromedial temporal resection by a single surgeon from January 1, 2000, to December 31, 2015. Thirteen patients were excluded for having less than 1 year of follow-up. Patients at the highest risk for seizure recurrence were identified. Intracranial electroencephalogram (iEEG) analyses generated 3-dimensional seizure spread representations and quantified rapid seizure spread. The final analyses of seizure outcome and follow-up data were performed in June 2017. MAIN OUTCOMES AND MEASURES The Engel class seizure outcome following surgery was evaluated for all patients, defining seizure recurrence as Engel class II or greater. Intracranial recordings of neocortical grids/strips and depth electrodes were analyzed visually for seizure spread. Fast β power was projected onto reconstructions of patients' brain magnetic resonance imaging scans to visualize spread patterns and was quantified to compare power within vs outside resective margins. RESULTS Of 118 patients with 1 year of follow-up or more (mean [SD], 6.5 [4.6] years), 66 (55.9%) were women and 52 (44.1%) were men (median age, 39 years [range, 4-66 years]). The cumulative probability of continuous Engel class I seizure freedom since surgery at postoperative year 10 and afterward was 65.6%, with 92% of recurrences in years 1 to 3. Multivariable statistical analyses found that the selection for iEEG study was the most reliable predictor of seizure recurrence, with a mixed-effects model estimating that the Engel score in the iEEG cohort was higher by a mean (SD) of 1.1 (0.33) (P = .001). In patients with iEEG results, rapid seizure spread in less than 10 seconds was associated with recurrence (hazard ratio, 5.99; 95% CI, 1.7-21.1; P < .01). In the first 10 seconds of seizures, fast β power activity outside the resective margins in the lateral temporal cortex was significantly greater in patients whose seizures recurred compared with patients who were seizure-free (mean [SEM], 137.5% [16.8%] vs 93.4% [4.6%]; P < .05). CONCLUSIONS AND SIGNIFICANCE Rapid seizure spread outside anteromedial temporal resection resective margins plays a significant role in the surgical failure of drug-resistant TLE. Seizure control after epilepsy surgery might be improved by investigating areas of early spread as candidates for resection or neuromodulation.
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