Book contents
- Frontmatter
- Contents
- List of contributors
- Preface
- Acknowledgments
- Foreword by Sid Gilman
- PART I INTRODUCTION
- PART II THEORIES OF CEREBELLAR CONTROL
- PART III CLINICAL SIGNS AND PATHOPHYSIOLOGICAL CORRELATIONS
- PART IV SPORADIC DISEASES
- PART V TOXIC AGENTS
- PART VI ADVANCES IN GRAFTS
- PART VII NEUROPATHOLOGY
- PART VIII DOMINANTLY INHERITED PROGRESSIVE ATAXIAS
- PART IX RECESSIVE ATAXIAS
- 36 Friedreich's ataxia
- 37 Early-onset inherited ataxias
- 38 Ataxia telangiectasia and variants
- 39 Ataxia in mitochondrial disorders
- 40 Episodic ataxias as ion channel diseases
- Index
36 - Friedreich's ataxia
from PART IX - RECESSIVE ATAXIAS
Published online by Cambridge University Press: 06 July 2010
- Frontmatter
- Contents
- List of contributors
- Preface
- Acknowledgments
- Foreword by Sid Gilman
- PART I INTRODUCTION
- PART II THEORIES OF CEREBELLAR CONTROL
- PART III CLINICAL SIGNS AND PATHOPHYSIOLOGICAL CORRELATIONS
- PART IV SPORADIC DISEASES
- PART V TOXIC AGENTS
- PART VI ADVANCES IN GRAFTS
- PART VII NEUROPATHOLOGY
- PART VIII DOMINANTLY INHERITED PROGRESSIVE ATAXIAS
- PART IX RECESSIVE ATAXIAS
- 36 Friedreich's ataxia
- 37 Early-onset inherited ataxias
- 38 Ataxia telangiectasia and variants
- 39 Ataxia in mitochondrial disorders
- 40 Episodic ataxias as ion channel diseases
- Index
Summary
Introduction
In 1863, Nicholaus Friedreich, Professor of Medicine in Heidelberg, Germany, wrote three articles about a ‘degenerative atrophy of the posterior columns of the spinal cord’ causing progressive ataxia, sensory loss, and muscle weakness (Friedreich, 1863a, 1863b, 1863c). It could strike several siblings with normal, unaffected parents. Friedreich reported additional cases in 1876 and 1877. Charcot suspected for some time that Friedreich had described a form of tabes, but eventually he recognized that it was a new disease entity. Brousse (1882) was the first to use the name ‘Friedreich ataxia.’ After a few years, Ladame (1890) reported more than 100 cases. In the years that followed, more and more descriptions of inherited degenerative diseases causing ataxia were published. Many of these cases were noted to have some characteristics resembling Friedreich's ataxia, eventually blurring the definition of the disease (Bell and Carmichael, 1939). Only in the late 1970s did landmark studies establish the autosomal recessive pattern of inheritance (Geoffroy et al., 1976; Harding, 1981; Harding and Zilkha, 1981) and define rigorous diagnostic criteria (Geoffroy et al., 1976; Harding, 1981). It was realized that the disease shows variability in the clinical picture, sometimes with atypical presentations coexisting in the same family with typical cases (Winter et al., 1981; Filla et al., 1990, 1991; Muller-Felber et al., 1993). Specific variants, such as the so-called Acadian ataxia (Barbeau et al., 1984; Richter et al., 1996), were recognized in some ethnic groups.
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- The Cerebellum and its Disorders , pp. 505 - 518Publisher: Cambridge University PressPrint publication year: 2001
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