Delayed Contrast-Enhanced MR Angiography for the Assessment of Internal Carotid Bulb Patency in the Context of Acute Ischemic Stroke: An Accuracy, Interrater, and Intrarater Agreement Study.

BACKGROUND AND PURPOSE: CTA has shown limited accuracy and reliability in distinguishing tandem occlusions and pseudo-occlusions on initial acute stroke imaging. The utility of early and delayed contrast-enhanced MRA in this setting is unknown. We aimed to assess the accuracy and reliability of early and delayed contrast-enhanced MRA for carotid bulb patency in patients with acute ischemic stroke. MATERIALS AND METHODS: We retrospectively reviewed patients who had ICA occlusion and underwent thrombectomy with preprocedural early and delayed contrast-enhanced MRA in a single comprehensive stroke center. During 2 sessions, 10 raters independently assessed 32 cases with early contrast-enhanced MRA (with an additional delayed contrast-enhanced MRA sequence during the second reading session). Their judgments were compared with DSA as a reference standard. Accuracy and interrater agreement were measured. Five raters undertook a third reading session to assess intrarater agreement. RESULTS: Accuracy for the assessment of carotid bulb patency with early contrast-enhanced MRA was limited (69%; 95% CI, 59%-79%), with moderate interrater agreement (κ = 0.42; 95% CI, 0.27-0.55). The second reading with an additional delayed contrast-enhanced MRA sequence improved both accuracy (82%; 95% CI, 73%-91%; P < .001) (raters corrected 43%-77% of incorrect diagnoses with early contrast-enhanced MRA alone; mean = 59%) and interrater agreement (κ = 0.56; 95% CI, 0.41-0.73; P = .07). Intrarater agreement was almost perfect, substantial, and moderate for 3, 1, and 1 raters. CONCLUSIONS: Early contrast-enhanced MRA has limited accuracy and repeatability for the evaluation of carotid bulb patency in acute ischemic stroke. The additional delayed contrast-enhanced MRA sequence may improve accuracy and reliability.

GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination.

Oculodentodigital dysplasia is an autosomal dominant disorder due to GJA1 variants characterized by dysmorphic features. Neurologic symptoms have been described in some patients but without a clear neuroimaging pattern. To understand the pathophysiology underlying neurologic deficits in oculodentodigital dysplasia, we studied 8 consecutive patients presenting with hereditary spastic paraplegia due to GJA1 variants. Clinical disease severity was highly variable. Cerebral MR imaging revealed variable white matter abnormalities, consistent with a hypomyelination pattern, and bilateral hypointense signal of the basal ganglia on T2-weighted images and/or magnetic susceptibility sequences, as seen in neurodegeneration with brain iron accumulation diseases. Patients with the more prominent basal ganglia abnormalities were the most disabled ones. This study suggests that GJA1-related hereditary spastic paraplegia is a complex neurodegenerative disease affecting both the myelin and the basal ganglia. GJA1 variants should be considered in patients with hereditary spastic paraplegia presenting with brain hypomyelination, especially if associated with neurodegeneration and a brain iron accumulation pattern.