Author Description
The Neuronal Ceroid Lipofuscinoses Are An Extremely Rare Group Of Inherited Neurodegenerative Diseases That Primarily Affect Children. Core Symptoms Of These Conditions Typically Include Epilepsy, Cognitive Decline And Visual Failure. These Diseases Are So Rare That Professionals Who Come Into Contact With Them Need A Consultative Reference Work That Enables Them To Become Expert, Or Identify Who To Contact For More Details. Fully Updated And Revised, This Second Edition Continues To Be The Definitive Volume On This Devastating Group Of Disorders. Written By An International Collection Of Authorities In The Field, It Provides Invaluable Advice On Their Diagnosis, Patient Care, And New Treatments That Are Available. This New Edition Of The Definitive Reference Text On The Neuronal Ceroid Lipofuscinoses Will Prove Useful For Clinicians, Family Physicians, Research Scientists, Diagnostic Laboratories, Families Affected By The Disease As Well As By Workers In Industry Planning Translational Research.
Menrva's Summary
THE THESIS
This volume investigates the clinical, genetic, and diagnostic complexities of the Neuronal Ceroid Lipofuscinoses (NCL), a group of rare, inherited neurodegenerative disorders. The authors, a team of international experts in the field, synthesize current research and clinical practice to provide a comprehensive framework for understanding the pathology, progression, and management of these conditions. The text serves as a primary resource for medical professionals, researchers, and families navigating the challenges of these diseases.
THE SCOPE MAP
What You Will Find
- Detailed clinical descriptions of NCL subtypes and their associated genetic mutations
- Methodologies for diagnosis and laboratory identification
- Strategies for patient care and management of symptoms such as epilepsy and visual decline
- Overviews of emerging therapeutic interventions and translational research
Scope Limits
- The text focuses primarily on clinical and research-oriented data rather than personal narratives or patient-centered support group resources
- It does not provide exhaustive coverage of every experimental drug currently in early-stage clinical trials
THE AUTHORITY PERSPECTIVE
Experts and clinicians recognize this volume as the definitive reference text for the study and management of Batten disease. Readers frequently note the high level of academic density and the technical rigor required to fully utilize the diagnostic and research information provided.
Page Count:
480
Publication Date:
2011-01-01
ISBN-10:
0191029475
ISBN-13:
9780191029479
Genetics
Rare Diseases
Neurology
Medical
Pediatrics
Reference