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Gephyrin Neurological Autoimmunity.

Gephyrin is a postsynaptic scaffold protein essential for inhibitory neurotransmission. Gephyrin-immunoglobulin G (IgG) was reported, decades ago, in a single case of paraneoplastic stiff-person-like syndrome, but its broader clinical relevance remains unknown. While investigating unclassified synaptic IgGs mimicking amphiphysin-IgG, we identified gephyrin-IgG in 3 patients using human protein microarray. Gephyrin specificity was confirmed using confocal tissue-based immunofluorescence assay, cell-based assay, and Western blot. The 3 patients, all female, had: encephalitis (2) and myeloneuropa

Кэтепсины в неврологических заболеваниях.

Кэтепсины, семейство лизосомных выступов, играют важнейшую роль в поддержании клеточного гомеостаза посредством разложения белков и модуляции иммунной реакции. В центральной нервной системе (КНС) их функции выходят за рамки классического протеолиза, оказывая влияние на нейроинфламму, синаптическое восстановление и нейродегенерацию. Появляющиеся данные подчеркивают решающую роль микроглиальных катепсинов в патофизиологии ряда неврологических расстройств. Этот обзор обобщает текущие знания об участии катепсинов в спектре заболеваний CNS, включая болезнь Паркинсона, болезнь Альцгеймера, множестве

Совпадение в аннотации оригинала
Cathepsins, a family of lysosomal proteases, play critical roles in maintaining cellular homeostasis through protein degradation and modulat … igenetic factors may yield novel strategies for early diagnosis and disease-modifying treatments in neurology.

Нейростероиды и неврологические расстройства.

Нейростероиды играют важную роль в качестве эндогенных нейромодуляторов, которые производятся на местном уровне в центральной нервной системе и быстро изменяют взрываемость нейронов и активацию микроглиальных клеток и астроцитов. Здесь мы рассматриваем механизмы синтеза, метаболизма и действия нейростероидов в центральной нервной системе. Нейростероиды могут играть различные роли в центральной нервной системе в физиологических условиях, связывая их с мембранными ионными каналами и рецепторами, такими, как рецепторы гамма-аминобутирной кислоты типа А, рецепторы Nметил-D-асортатных рецепторов, к

Neurological gait assessment.

Gait disorders are a common feature of neurological disease. The gait examination is an essential part of the neurological clinical assessment, providing valuable clues to a myriad of causes. Understanding how to examine gait is not only essential for neurological diagnosis but also for treatment and prognosis. Here, we review aspects of the clinical history and examination of neurological gait to help guide gait disorder assessment. We focus particularly on how to differentiate between common gait abnormalities and highlight the characteristic features of the more prevalent neurological gait

Epigenetics of neurological diseases.

Higher-order DNA structure and gene expression are governed by epigenetic processes like DNA methylation and histone modifications. Abnormal epigenetic mechanisms are known to contribute to the emergence of numerous diseases, including cancer. Historically, the chromatin abnormalities were only considered to be limited to discrete DNA sequences and were thought to be associated with rare genetic syndrome however, recent discoveries have pointed to genome-wide level changes in the epigenetic machinery which has contributed to a better knowledge of the mechanisms underlying developmental and deg

Paraneoplastic Neurologic Syndromes.

OBJECTIVE: Progress is ongoing in understanding paraneoplastic neurologic disorders, with new syndromes and antibodies being described and more detailed evidence available to guide workup for diagnosis and treatment to improve outcomes. Many excellent reviews have summarized the molecular features of different antibodies, but this article emphasizes the clinical features of each syndrome that may help guide initial diagnosis and treatment, which often should occur before an antibody or cancer is found to confirm the diagnosis. LATEST DEVELOPMENTS: Recent findings include updated diagnostic cr

Sleepiness in neurological disorders.

Sleepiness is a frequent and underrecognized symptom in neurological disorders, that impacts functional outcomes and quality of life. Multiple and potentially additive factors might contribute to sleepiness in neurological disorders, including sleep quality alterations, circadian rhythm disorders, drugs, and sleep disorders including sleep apnea or central disorders of hypersomnolence. Physician awareness of the possible symptoms of hypersomnolence, and associated causes is of crucial importance to allow proper identification and treatment of underlying causes. This review first provides a bri