Melo and colleagues describe the prenatal evolution and perinatal outcomes of 11 neonates who had developmental abnormalities and neurological damage associated with Zika virus (ZIKV) infection in Brazil. They observed 11 infants with congenital ZIKV infection from gestation to 6 months in the state of Para铆ba, Brazil. Combined findings from clinical, laboratory, imaging, and pathological examinations provided a more complete picture of the severe damage and developmental abnormalities caused by ZIKV infection than has been previously reported. Editorial perspective is provided by Raymond P. Roos, MD.
Lynch and coauthors genetically characterize a group of patients with typical features of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) who do not carry CSF1R mutations. Five patients from 4 families were identified with clinical, radiologic, or pathologic features of ALSP in whom CSF1R mutations had been excluded previously by sequencing. This work indicates that mutations in the tRNA synthetase AARS2 gene cause a recessive form of ALSP. Editorial perspective is provided by Ludger Sch枚ls, MD.
Boulouis and colleagues investigate the association between key magnetic resonance imaging markers of small vessel disease (as per the Standards for Reporting Vascular Changes on Neuroimaging guidelines) and hematoma volume and expansion in patients with lobar or deep intracerebral hemorrhage (ICH). They analyzed data collected from 418 consecutive patients admitted with primary lobar or deep ICH to a single tertiary care medical center. In these patients, the presence of cortical superficial siderosis was an independent variable associated with larger lobar ICH volume, and the absence of cerebral microbleeds was associated with larger lobar and deep ICHs. Editorial perspective is provided by Eric E. Smith, MD, MPH.
Han et al investigate the subregional pattern of striatal dopamine transporter loss in patients with pure akinesia with gait freezing (PAGF) in comparison with patients with progressive supranuclear palsy (PSP) and those with Parkinson disease (PD). This retrospective case-control study included 15 patients with PAGF, 27 with PD, 20 with PSP, and 11 healthy controls who underwent F-18-fluorinated-N-3-fluoropropyl-2尾-carboxymethoxy-3尾-(4-iodophenyl)-nortropane (18F FP-CIT) positron emission tomography. On 18F FP-CIT positron emission tomography, patients with PAGF show a pattern of preferential dopaminergic loss similar to that seen in patients with PSP.