Preface

Ataxia or dystaxia is a disorder of the nervous system characterized by a lack of coordination of voluntary muscle movements and imbalance. It is normally associated with degeneration or blockage of specific areas of the cerebrum, cerebellum, and/or vestibular sensory connection pathways with the periphery.

Among all neurological diseases, ataxia stands out for its considerable variability of causes. There may be numerous etiologies for ataxias, and they may occur alone or simultaneously, acutely or chronically, and at any age in children, adults, and the elderly. As the pathophysiology of ataxias is as diverse as the various neurological and systemic diseases that affect the nervous system, the first step is to discover its underlying mechanism and rule out a detectable known genetic cause. Non-genetic ataxias are caused by acquired conditions, sporadic neurodegenerative disorders, or by unknown processes.

This book unravels the foundations and essential interventions of ataxia disorders, presenting introductory and pathophysiological aspects to give an overview of ataxia as well as contemporary and current evidence-based information on various scenarios, for example, when the disorder appears during early childhood, or even in adulthood and old age, in addition to presenting the authors' views and guidelines for interventions based on their own experiences.

The first section consists of an introductory chapter that gives an overview of ataxic disease that mainly affects adults. It discusses the main processes that cause ataxia, the most common signs and symptoms, what is involved in the ataxic patient, ataxia's variability, the main diagnostic tests used, and the treatment of ataxia in adults.

The second section focuses on several common scenarios in which the ataxic disorder will appear. Chapter 2 discusses genetic conditions like ataxia telangiectasia, which is an autosomal recessive disorder characterized by cerebellar degeneration, telangiectasias, immunodeficiency, cancer susceptibility, and radiation sensitivity. Ataxia telangiectasia is a complex disorder that usually first appears in early childhood when children begin to sit or walk. Although the disease is genetic, there are still many unresolved questions about its complexity and severity, for example, the influence of environmental factors, disease-modifying genes, epigenetics, severity, and progression of its various manifestations. Chapter 3 gives an overview of childhood-onset ataxia disorder. Childhood presentations of ataxia can often be difficult to diagnose. Recognizing ataxia is especially difficult in young children; the most frequent reason for consultation is gait instability and loss of balance. Clinical presentations tend to be heterogeneous and key considerations may vary based on age of onset, disease progression, and associated manifestations. New genetic diagnosis techniques have emerged, enabling the identification of specific pathologies. While there are currently limited treatable conditions, ongoing studies are proposing promising treatments for certain pathologies in the near future, thus increasing the importance of accurate

diagnostic approaches. Chapter 4 is about neurodegenerative diseases, such as multiple sclerosis, in which ataxia is a common neurological manifestation affecting about 80% of people with the disease, in addition to being a symptom that can drastically affect the patient's quality of life. The underlying pathophysiology of ataxia in multiple sclerosis is not fully understood, but it is thought to be related to demyelination and neurodegeneration in specific areas of the brain. These symptoms can range from mild to severe and can include lack of coordination, difficulty speaking and difficulty walking. Therapeutic interventions usually involve pharmacotherapy to improve coordination, physical therapy to increase strength and balance, surgical procedures to relieve tremors, and occupational therapy. It is important to work closely with a clinician to develop a personalized plan to treat symptoms.

The last section deals with interventions and therapies and includes two chapters detailing various therapies for ataxia to improve quality of life. Chapter 5 examines physical therapy and nutritional therapy, and Chapter 6 reviews common treatment options used concurrently with drug therapy to control symptoms.

There are currently no specific approved therapies for the treatment of ataxia, however, several promising therapeutic approaches are being investigated, including the use of disease-modifying therapies, rehabilitation interventions, and symptomatic treatments. Many research efforts are underway to find more effective treatments for ataxia, including rehabilitation measures that can be done at home to help maintain the patient's muscle strength and balance.

> **Dr. Patricia Bozzetto Ambrosi** Independent Clinical Neurology and Imaging Consultant, London, United Kingdom

> > Clinical Professor, European Academy of Neurology, London, United Kingdom

Academic Researcher Fellow, International Association of Hospice and Palliative Care, London, United Kingdom

> Member of National Ataxia Foundation, London, United Kingdom

> > **1**

Section 1

Introduction

Section 1 Introduction
