Book contents
- The Neurology Riddle Book
- Series page
- The Neurology Riddle Book
- Copyright page
- Dedication
- Contents
- Foreword
- Preface
- 1
- 2
- 3
- 4
- 5
- 6
- 7
- 8
- 9
- 10
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- Index
79
Published online by Cambridge University Press: 21 November 2024
Book contents
- The Neurology Riddle Book
- Series page
- The Neurology Riddle Book
- Copyright page
- Dedication
- Contents
- Foreword
- Preface
- 1
- 2
- 3
- 4
- 5
- 6
- 7
- 8
- 9
- 10
- 11
- 12
- 13
- 14
- 15
- 16
- 17
- 18
- 19
- 20
- 21
- 22
- 23
- 24
- 25
- 26
- 27
- 28
- 29
- 30
- 31
- 32
- 33
- 34
- 35
- 36
- 37
- 38
- 39
- 40
- 41
- 42
- 43
- 44
- 45
- 46
- 47
- 48
- 49
- 50
- 51
- 52
- 53
- 54
- 55
- 56
- 57
- 58
- 59
- 60
- 61
- 62
- 63
- 64
- 65
- 66
- 67
- 68
- 69
- 70
- 71
- 72
- 73
- 74
- 75
- 76
- 77
- 78
- 79
- 80
- 81
- 82
- 83
- 84
- 85
- 86
- 87
- 88
- 89
- 90
- 91
- 92
- 93
- 94
- 95
- 96
- 97
- 98
- 99
- 100
- 101
- 102
- 103
- 104
- 105
- 106
- 107
- 108
- 109
- 110
- 111
- 112
- 113
- 114
- 115
- 116
- 117
- 118
- 119
- 120
- 121
- 122
- 123
- 124
- 125
- 126
- 127
- 128
- 129
- 130
- 131
- 132
- 133
- 134
- 135
- 136
- 137
- 138
- 139
- 140
- 141
- 142
- 143
- 144
- 145
- 146
- 147
- 148
- 149
- 150
- Index
Summary
Hereditary ataxias are classified based on their inheritance. Amongst autosomal recessive ataxias, Friedreich ataxia (FA) is the most common. Most FA cases are caused by loss-of-function mutations in the frataxin gene on chromosome 9q13. This mutation is characterized by GAA trinucleotide repeat expansion in the noncoding first intron of the frataxin gene, resulting in its silencing and deficiency.
- Type
- Chapter
- Information
- The Neurology Riddle Book150 Common and Rare Neurological Diseases in Riddle Form, pp. 251 - 252Publisher: Cambridge University PressPrint publication year: 2024