Neurology Alert – July 1, 2022

Genetic Evaluation of Hereditary Spastic Paraplegia

Hereditary spastic paraplegia (HSP) refers to a group of rare, clinically heterogenous degenerative neurogenetic disorders resulting in spasticity, gait impairment, and falls as the result of a length-dependent upper motor neuron degeneration. Next-generation sequencing with multigene panels or exome analysis can confirm molecular diagnosis of approximately 30% of HSP patients. Multigene panels can identify the common causative variants, variants on rarely involved genes, and structural rearrangements.

Risk Factors and Outcomes for Post-Traumatic Seizures After Moderate to Severe Traumatic Brain Injury

Using data collected from an Australian registry, a population-based cohort study identified risk factors for early post-traumatic seizures (EPS), associated morbidity and mortality, and contribution to development of post-traumatic epilepsy (PTE). EPS were associated with significant in-hospital morbidity, poorer outcomes, and increased risk of mortality at 24 months of follow-up. Patients with EPS had a higher risk of developing PTE.

How Should We Manage False-Positive Myasthenia Gravis Antibody Studies?

False-positive autoantibody tests for myasthenia gravis occur in a small number of patients who undergo broad screening for autoimmune disorders affecting the peripheral and central nervous system. Careful investigation of clinical and electrophysiological features of each patient will determine the validity of these tests.

Mechanical Thrombectomy with or Without Intravenous Thrombolysis?

Current stroke treatment guidelines recommend combined use of intravenous thrombolysis with alteplase prior to endovascular thrombectomy for patients with large vessel occlusion. However, there continues to be controversy surrounding this recommendation, and these investigators undertook a systematic review and meta-analysis of completed therapeutic trials to help resolve the controversy.

Endovascular Thrombectomy with or Without Alteplase? Get With The Guidelines

Since 2015, endovascular thrombectomy with intravenous alteplase has been the standard of care for patients with large vessel occlusion and ischemic stroke. However, since that time, the continuing use of alteplase has been questioned by many practitioners and investigators.

Does Tranexamic Acid Treatment of Acute Intracerebral Hemorrhage Cause Ischemic Stroke?

Acute spontaneous intracerebral hemorrhage is one of the least treatable forms of stroke. Tranexamic acid now is being studied as a hemostatic agent in spontaneous intracerebral hemorrhage. However, similar to the use of other antifibrinolytic drugs, there is concern that there may be ischemic complications from this treatment, including ischemic stroke.