Search engine for discovering works of Art, research articles, and books related to Art and Culture
Javascript must be enabled to continue!
Neuronal Ceroid Lipofuscinoses
View through CrossRef
Neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative disorders beginning mainly in childhood, rarely in adults. They are characterized by the accumulation of autofluorescent lipopigments in brain, especially in neurons. Their clinical heterogeneity is now explained by the huge number of genes (from CLN1 to CLN14) involved in their pathogenesis. Their diagnosis is possible using enzymatic tests and/or direct sequencing of the corresponding genes. Different therapeutic approaches are in development for these diseases such as enzyme replacement therapy or gene transfer.
Title: Neuronal Ceroid Lipofuscinoses
Description:
Neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative disorders beginning mainly in childhood, rarely in adults.
They are characterized by the accumulation of autofluorescent lipopigments in brain, especially in neurons.
Their clinical heterogeneity is now explained by the huge number of genes (from CLN1 to CLN14) involved in their pathogenesis.
Their diagnosis is possible using enzymatic tests and/or direct sequencing of the corresponding genes.
Different therapeutic approaches are in development for these diseases such as enzyme replacement therapy or gene transfer.
Related Results
Information Processing by Neuronal Populations
Information Processing by Neuronal Populations
Models and concepts of brain function have always been guided and limited by the available techniques and data. This book brings together a multitude of data from different backgro...
Imaging the Networks of Consciousness
Imaging the Networks of Consciousness
This chapter addresses and reconciles often conflicting conclusions published in the professional functional neuroimaging literature regarding the neuronal networks that may mediat...
Imaging the Networks of Motor Cognition
Imaging the Networks of Motor Cognition
It has been suggested that we comprehend and imagine voluntary actions through the use of essentially the same neuronal networks that mediate their execution. Two hypotheses, named...
Imaging the Networks of Voluntary Actions
Imaging the Networks of Voluntary Actions
The concept of voluntary actions is inextricably related to the concept of the will. Accordingly, in the first section of this chapter, the authors examine briefly the neuroimaging...
Using ASL to Measure Perfusion Changes in an Individual: Task-Based ASL and Beyond
Using ASL to Measure Perfusion Changes in an Individual: Task-Based ASL and Beyond
Arterial spin labeling (ASL) MRI measurements of perfusion provide a flexible and unique way to study the brain’s physiology and function. They enable experimental designs in neuro...
Sexual Dysfunction and Exercise (DRAFT)
Sexual Dysfunction and Exercise (DRAFT)
Sexual dysfunction often is multifactorial, with contributing etiologies ranging from cardiometabolic, neuronal, hormonal to psychological in origin. Whatever the origin, there is ...
Fluid Biomarkers Indicative of Neurodegenerative Diseases
Fluid Biomarkers Indicative of Neurodegenerative Diseases
A major unifying feature of neurodegenerative diseases (NDDs) is excessive neuronal loss. Depending on when and where this occurs, patients may express distinct neurological and ps...
Pathogenesis of Lewy Body Dementia
Pathogenesis of Lewy Body Dementia
This chapter discusses the Pathogenesis of Lew Body Dementia. The Lewy body dementias (LBDs) are a spectrum of dementing neurodegenerative disorders underpinned by the pathological...