Ebook
Ebook Neurologi : Rosenbergs Molecular and Genetic Basis of Neurological and Psychiatric Disease Sixth Edition
We are publishing the sixth edition of “Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric
Disease.” The first edition appeared in 1993 followed by editions in 1997, 2003, 2008, and 2015. We are most grate-
ful for the foresight, dedication, and authorship of our former editors for the success of the first five editions. They
are Stanley B. Prusiner, Salvatore DiMauro, Robert L. Barchi, Louis M. Kunkel, Henry L. Paulson, Louis Ptacek,
and Eric J. Nestler. The sixth edition is edited by Roger N. Rosenberg and Juan M. Pascual.
This edition has been expanded and now includes chapters on Precision Medicine, Genomics, Epigenomics,
Immunogenetics, CRISPR Therapy, Antisense Oligonucleotide Drugs, Rett Syndrome, DNA Sequencing and
other methods of exonic and genomic analysis; Pharmacogenomics, Causation, association and other statistical
tools, Stem Cells and Therapeutic Development, Neuroimaging, Genetic Counseling, Neurodegeneration with
Brain Iron Accumulation, Pantothenate Kinase Deficiency, Disorders of Manganese Transport,
Aceruloplasminemia, Congenital Disorders of Nlinked Glycosylation. Neurotransmitter Disorders,
Frontotemporal Dementias, Dystonia, Glioblastoma, Tuberous Sclerosis, Von HippelLindau Disease,
Incontinentia Pigmenti, Vanishing White Matter Disease, Pain Disorders, Stroke, Sickle Cell Disease, and Autism.
Clearly, neurogenetics and neurogenomics have advanced rapidly and are now poised to develop in the next
decade effective targeted neurotherapeutics.
In the 27 years spanning the six editions of our book, molecular genomic analyses of the human genome have
been implemented seeking the genetic basis for natural selection providing biological fitness and also risk of
developing disease. Genome-wide association studies (GWAS) seeking gene variations, single nucleotide poly-
morphisms (SNPs), causal of several human diseases have been conducted in recent years, including autism,
schizophrenia, obesity, diabetes, and heart disease.
Whole-genome sequence (WGS) studies, whole-exome sequence (WES) studies, and GWAS for association or
causation with neurological diseases have been reported extensively in the past decade. An increased risk or cau-
sation for amyotrophic lateral sclerosis, Alzheimer’s disease (AD), Parkinson’s disease, multiple sclerosis, epi-
lepsy, restless leg syndrome, and several movement disorders has been associated with polymorphisms or
mutations in specific genes. These observations have advanced an understanding of the causation of inherited,
complex polygenetic, multifactorial neurological diseases. They have been made possible by the publication of
the human genome and haplotype studies (HapMap analyses).
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