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
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- Index
116
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
First called von Recklinghausen disease, named after German pathologist Friedrich Daniel von Recklinghausen in 1882, neurofibromatosis type 1 (NF1) is a genetic neurocutaneous condition, making up 96% of all cases of neurofibromatosis. With a loss of function mutation (50% are inherited, 50% de novo) of the neurofibromin 1 gene on chromosome 11, those with NF1 have nonfunctional neurofibromin, which functions in the mTOR and RAS/MAPK pathways as a tumor suppressor. Neurofibromatosis type 1 has an autosomal dominant inheritance pattern and has no gender predominance.
- Type
- Chapter
- Information
- The Neurology Riddle Book150 Common and Rare Neurological Diseases in Riddle Form, pp. 365 - 366Publisher: Cambridge University PressPrint publication year: 2024