A Comparison of Pathogenic Eukaryotic Elongation Factor 2 (EEF2) Variants in Spinocerebellar Ataxia 26 Versus De Novo Mutations.

In this article, we present an eight-year-old boy with developmental delay and cerebellar symptoms who was found to have a de novo eukaryotic elongation factor 2 (EEF2) mutation on genetic testing. Previously, pathogenic mutations in EEF2 have been associated with spinocerebellar ataxia 26. An extremely rare disorder, spinocerebellar ataxia type 26 (SCA26), has only been documented as an autosomal dominant, inherited, late-onset ataxia in one six-generation family of Norwegian descent.

A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma.

Tuberous sclerosis complex (TSC) is an autosomal dominant disease associated with tumors and malformed tissues in the brain and other vital organs. We report a novel de novo frameshift variant of the TSC1 gene (c.434dup;p.

Neurocutaneous Disorders for the Practicing Neurologist: a Focused Review.

The neurocutaneous disorders (NCDs) embrace an extensive group of developmental disorders associated with involvement of the skin, central nervous system (CNS), and/or the peripheral nervous system (PNS). The neurocutaneous manifestations relate to the common ectodermal origin of these organs. This review intended for the practicing clinical neurologist focuses on selected aspects of the NCDs primarily those associated with cerebrovascular disease.

Neurofibromatosis: part 2--clinical management.

Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tumors and cutaneous manifestations, and affects nearly 80 thousand Brazilians. Increasing scientific knowledge on NF has allowed better clinical management and reduced rate of complications and morbidity, resulting in higher quality of life for NF patients.

A multidisciplinary approach to the treatment of anti-NMDA-receptor antibody encephalitis: a case and review of the literature.

Anti-NMDAR (N-methyl-d-aspartate receptor) encephalitis is a novel autoimmune and paraneoplastic disease often presenting as acute psychosis. Few studies exist in the psychiatric literature on neuroimmunity and behavioral management. This article reviews the epidemiology, diagnosis, pathophysiology, and management of this disease from a neuropsychiatric perspective.