Neurogenetics, Issue 495Stefan-M. Pulst Neurogenetics is intended for any physician or scientist who manages patients with inherited diseases of the nervous system. It presents the clinical phenotypes of the most commonly inherited neurologic diseases, and their molecular pathogenesis, followed by a description of the appropriate tests to be used in diagnosis. Two introductory chapters familiarize the nongeneticist with medical genetic terminology and molecular genetic techniques useful in the analysis of genetic disease and genetic testing. Subsequent chapters examine major neurologic disorders caused by single defects, as well as disease phenotypes such as Alzheimer disease or amyotrophic lateral sclerosis which may be caused by defects in single genes, but may also be seen as sporadic diseases. The genetic components of other common neurologic disorders, such as epilepsy, multiple sclerosis, migraine, and stroke are all covered in detail. The final chapter discusses genetic counseling of symptomatic and pre-symptomatic individuals. Throughout, chapters discuss genotype/phenotype correlations and, where appropriate, animal models for inherited human neurologic diseases. Several chapters are devoted to recently discovered diseases caused by unstable DNA repeats. Special emphasis is placed on conveying how DNA testing can be applied to the daily practice of geneticists and neurologists. |
Contents
II | 1 |
III | 2 |
IV | 6 |
V | 12 |
VI | 14 |
VII | 20 |
VIII | 25 |
XII | 28 |
CIII | 220 |
CIV | 221 |
CVI | 224 |
CVIII | 225 |
CIX | 226 |
CX | 227 |
CXI | 231 |
CXII | 233 |
XIII | 29 |
XIV | 30 |
XV | 32 |
XVI | 33 |
XVII | 34 |
XVIII | 38 |
XIX | 39 |
XX | 41 |
XXI | 42 |
XXII | 43 |
XXIII | 45 |
XXVII | 46 |
XXVIII | 47 |
XXIX | 49 |
XXX | 51 |
XXXI | 53 |
XXXII | 56 |
XXXIII | 57 |
XXXIV | 61 |
XXXVIII | 62 |
XL | 64 |
XLI | 65 |
XLIII | 66 |
XLV | 68 |
XLVI | 69 |
XLVIII | 70 |
LI | 77 |
LV | 81 |
LVI | 88 |
LVII | 91 |
LVIII | 95 |
LIX | 105 |
LX | 106 |
LXI | 109 |
LXII | 110 |
LXIII | 112 |
LXIV | 113 |
LXVI | 117 |
LXVII | 118 |
LXVIII | 123 |
LXIX | 131 |
LXXIII | 132 |
LXXV | 135 |
LXXVI | 137 |
LXXVII | 138 |
LXXVIII | 149 |
LXXIX | 151 |
LXXX | 152 |
LXXXI | 163 |
LXXXII | 170 |
LXXXIII | 177 |
LXXXIV | 180 |
LXXXV | 191 |
LXXXVI | 192 |
LXXXVIII | 194 |
XC | 195 |
XCI | 196 |
XCII | 197 |
XCIII | 205 |
XCIV | 207 |
XCVI | 210 |
XCVII | 219 |
CXIII | 247 |
CXIV | 252 |
CXV | 255 |
CXVI | 256 |
CXVII | 257 |
CXVIII | 265 |
CXIX | 266 |
CXXII | 267 |
CXXIV | 268 |
CXXVII | 269 |
CXXX | 270 |
CXXXII | 271 |
CXXXIV | 273 |
CXXXVI | 274 |
CXXXVIII | 281 |
CXLII | 285 |
CXLIII | 287 |
CXLIV | 288 |
CXLV | 293 |
CXLVIII | 295 |
CXLIX | 296 |
CL | 303 |
CLI | 305 |
CLII | 317 |
CLVI | 319 |
CLVII | 321 |
CLVIII | 322 |
CLIX | 323 |
CLXI | 324 |
CLXII | 325 |
CLXIII | 326 |
CLXIV | 327 |
CLXVI | 335 |
CLXX | 338 |
CLXXI | 346 |
CLXXII | 347 |
CLXXIII | 351 |
CLXXVI | 352 |
CLXXVII | 358 |
CLXXVIII | 361 |
CLXXIX | 364 |
CLXXXI | 367 |
CLXXXIII | 373 |
CLXXXVII | 381 |
CLXXXVIII | 389 |
CXCII | 390 |
CXCIV | 391 |
CXCV | 392 |
CXCVI | 393 |
CXCVII | 396 |
CXCIX | 403 |
CCIII | 404 |
CCV | 421 |
CCVI | 424 |
CCVIII | 433 |
CCIX | 435 |
CCXII | 436 |
CCXVII | 438 |
CCXIX | 439 |
CCXXII | 440 |
443 | |
Common terms and phrases
abnormalities Acad Sci USA affected age of onset allele Alzheimer's disease amino acid amyloid analysis Ann Neurol Apolipoprotein associated astrocytomas atrophy autosomal dominant autosomal recessive brain CAG repeat cause cell cerebellar cerebral chromosome Clin cloning codon Creutzfeldt-Jakob disease deletion dementia detected diagnosis disorders dystonia dystrophin encoded epilepsy exons expression factor FSHD genomic genotype gliomas hereditary Hum Genet Hum Mol Genet human Huntington's disease identified inherited LGMD linkage loci locus mapped markers meningiomas mice migraine missense mitochondrial DNA mosome motor mtDNA multiple sclerosis muscular dystrophy muta myelin myopathy myotonia myotonic myotonic dystrophy Nat Genet Natl Acad Sci netic neurofibromatosis neurofibromin Neurology neuropathy normal parkinsonism patients pedigrees phenotype point mutation polymorphism prion diseases prion protein PRNP Proc Natl Acad receptor region risk seizures sequence spastic spinal sporadic stroke studies symptoms syndrome tation tients tion transgenic tumor suppressor tumor suppressor gene X-linked