Developmental and Epileptic Encephalopathy as a Novel Clinical Hallmark of SCA21.

Spinocerebellar ataxia-21 (SCA21) is an autosomal dominant neurodegenerative disorder due to pathogenic variants of the TMEM240 gene. Its clinical presentation usually includes slowly progressive cerebellar ataxia, myoclonus-dystonia syndrome, cognitive impairment, and behavioral problems. Here, we reported the first patient with SCA21 presenting with a developmental and epileptic encephalopathy with seizure onset during late childhood, a seizure semeiology including atonic, clonic, myoclonic seizures, and absences with eyelid myoclonia and an EEG pattern characterized by diffuse spike and wave discharges.

The value of CSF neurotransmitter monitoring in the outcome of gene therapy in aromatic amino acid decarboxylase (AADC) defect.

Objective: Aromatic amino acid decarboxylase defect (AADCd) is an ultrarare autosomal recessive condition due to pathogenetic DDC variants, presenting with early psychomotor delay, movement disorders, and autonomic dysregulation, leading to severe neurological and intellectual disability. Intracranial AAV2-mediated DDC delivery proved to improve the natural history of the disease. We explored the usefulness of the assessment in CSF of metabolic biomarkers of the disease [3-O-methyldopa (3-OMD), 5-hydroxyindolacetic acid (5-HIAA), and homovanillic acid (HVA)], for the post-treatment clinical monitoring.

The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review.

The purpose of this study is to investigate the diagnostic and prognostic role of cerebrospinal fluid (CSF) biomarkers in the diagnostic work-up of glucose transporter 1 (GLUT1) deficiency. Reported here is a systematic review according to PRISMA guidelines collecting clinical and biochemical data about all published patients who underwent CSF analysis. Clinical phenotypes were compared between groups defined by the levels of CSF glucose (≤ 2.

The burden of epilepsy on long-term outcome of genetic developmental and epileptic encephalopathies: A single tertiary center longitudinal retrospective cohort study.

Background: This retrospective cohort analysis highlighted neurodevelopmental outcome predictors of genetic developmental and epileptic encephalopathies (DEE).

Patients And Methods: Patients' demographic, clinical and molecular genetics data were collected. All patients underwent clinical, developmental, and neuropsychological assessments.

Clinical profiles of acute arterial ischemic neonatal stroke.

Introduction: Perinatal stroke includes a heterogeneous group of early focal neurological injuries affecting subsequent brain development, often resulting in motor sequelae, symptomatic epilepsies, and cognitive, language and behavioral impairment. The incidence of perinatal stroke is about 1/3500 live birth.

Evidence Acquisition: A PubMed and SCOPUS search strategy included the entries "neonatal ischemic stroke" OR "perinatal ischemic stroke" and the age of the filter under 18 years and January 2000-August 2022.

Clinical, Cognitive and Neurodevelopmental Profile in Tetrasomies and Pentasomies: A Systematic Review.

: Sex chromosome aneuploidies (SCAs) are a group of disorders characterised by an abnormal number of sex chromosomes. Collective prevalence rate of SCAs is estimated to be around 1 in 400-500 live births; sex chromosome trisomies (e.g.

Stroke and stroke-like episodes in inborn errors of metabolism: Pathophysiological and clinical implications.

Inborn errors of metabolism causing stroke (ischemic or haemorrhagic) or stroke-like episodes (e.g., that are also called "metabolic strokes" and include acute brain lesions not related with alterations of blood flow) cover a wide range of diseases in which acute metabolic decompensations after trigger events (e.

Acute ischemic stroke in childhood: a comprehensive review.

This review provides an updated analysis of the main aspects involving the diagnosis and the management of children with acute ischemic stroke. Acute ischemic stroke is an emergency of rare occurrence in children (rate of incidence of 1/3500 live birth in newborns and 1-2/100,000 per year during childhood with peaks of incidence during the perinatal period, under the age of 5 and in adolescence). The management of ischemic stroke in the paediatric age is often challenging because of pleomorphic age-dependent risk factors and aetiologies, high frequency of subtle or atypical clinical presentation, and lacking evidence-based data about acute recanalization therapies.