Neurogenetics. Part II / volume editors, Daniel H. Geschwind, Henry L. Paulson, and Christine Klein.

Format:

Book

Contributor:

Geschwind, Daniel H., editor.

Paulson, Henry L., editor.

Klein, Christine, editor.

Series:

Handbook of clinical neurology ; Volume 148.

Handbook of Clinical Neurology ; Volume 148

Language:

English

Subjects (All):

Neurogenetics.

Nervous system--Diseases--Genetic aspects.

Nervous system.

Physical Description:

1 online resource (480 pages) : illustrations, tables.

Edition:

1st ed.

Place of Publication:

Amsterdam, Netherlands : Elsevier, 2018.

Summary:

Neurogenetics, Part II, Volume 148, the latest release in the Handbook of Clinical Neurology, provides the latest information on the genetic methodologies that are having a significant impact on the study of neurological and psychiatric disorders.

Contents:

Front Cover

Neurogenetics Part II

Copyright

Handbook of Clinical Neurology 3rd Series

Foreword

Preface

Contributors

Contents of Part II

Contents of Part I

Section V: Dementias

Chapter 26: The genetic landscape of Alzheimer disease

Early-onset alzheimer disease

Amyloid-beta precursor protein

PSEN1 and PSEN2

Late-onset alzheimer disease

Genes involved in cholesterol metabolism

Genes involved in immune response

Genes involved in endocytosis

Other genes involved in LOAD

Rare variants involved in alzheimer disease

APP

TREM2

SORL1 and ABCA7

PLD3, UNC5C, ADAM10, AKAP9, NOTCH3, ABCA1, and NCSTN

Clinical implications of genetic findings

Impact of genotyping in clinical trials

Conclusion

References

Chapter 27: Frontotemporal dementia

Introduction

MAPT

GRN

C9ORF72

VCP

CHMP2B

TARDBP

FUS

SQSTM1

UBQLN2

TBK1

CHCHD10

Genetic risk factors for FTD

Chapter 28: The genetics of dementia with Lewy bodies

Genetics and pathophysiology of dementia with lewy bodies

Parkinson disease genes

Alzheimer disease genes

Glucosidase beta acid (GBA) gene

APOE

Genetics and diagnosis/treatment development

Genetic testing

Future directions

Chapter 29: Prion disease

Prion protein structure, function, and gene (PRNP)

PrP structure function

PRNP variants and pathogenic mechanisms

PRNP missense mutations

PRNP octapeptide repeat insertions and deletions

PRNP nonsense mutations

PRNP polymorphisms in PrD

Purported mutations that might just be polymorphisms with strong risk factors

Phenotypes associated with PRNP mutations

Genetic JCD (also called familial JCD)

Gerstmann-Sträussler-Scheinker disease

Familial fatal insomnia.

Atypical presentations of gPrD

gPrD due to PRNP octapeptide repeat insertions

gPrD due to nonsense PRNP mutations

Summary and future directions

Disclosures

Section VI: Paroxysmal disorders

Chapter 30: Genetics of epilepsy

Introduction and overview

Approach to genetic evaluation of epilepsy subjects

Exclude nongenetic disorders

Family history

General physical and neurologic evaluations

Inherited metabolic disorders

Course

Seizure evaluation

Electroencephalography

Neuroimaging

Interpreting the results of genetic analysis

Representative genetically determined epilepsy syndromes

Epileptic encephalopathies

West syndrome

Dravet syndrome

Ohtahara syndrome

Migrating partial epilepsy of infancy

Emerging genotype-specific therapeutic recommendations in epileptic encephalopathy

Febrile seizures

Genetic generalized epilepsy

Childhood and juvenile absence epilepsy

Juvenile myoclonic epilepsy

Familial focal epilepsies

Familial temporal-lobe epilepsy (TLE)

Focal epilepsy with speech disorder

Progressive myoclonic epilepsies

Lafora disease

Neuronal ceroid lipofuscinoses

Other progressive myoclonic epilepsies

Benign familial neonatal and infantile epilepsy

Benign familial neonatal epilepsy (BFNE)

Benign familial infantile epilepsy (BFIE)

Epilepsy related to mitochondrial disorder

Leigh syndrome

Mitochondrial encephalomyopathy with lactic acidosis and stroke

Myoclonic epilepsy with ragged-red fibers

Mitochondrial DNA polymerase gamma (POLG)-related syndromes

Epilepsy due to inherited disturbance of cortical and subcortical development

Focal cortical dysplasia

Lissencephaly spectrum disorders

Holoprosencephaly

Conclusions

Chapter 31: Genetics of migraine.

Migraine as a disorder

Neuronal and vascular theories

Subtypes of common migraine

Heritability of migraine

Familial hemiplegic migraine and other monogenic syndromes

Genetic studies in common migraine

Candidate gene studies

Linkage studies

Genomewide association studies

How genetic findings contribute to understanding of migraine etiology

Comorbidity analyses

Sequencing studies

Chapter 32: Periodic paralysis

Clinical features of periodic paralysis

Muscle channel physiology

Genetics of hypokalemic periodic paralysis

Genetics of hyperkalemic periodic paralysis

Genetics of normokalemic periodic paralysis

Genetics of andersen-tawil syndrome

Genetics of thyrotoxic periodic paralysis

Rare variants of periodic paralysis

Recessive congenital myasthenic syndrome and periodic paralysis

Mitochondrial genes

Ryanodine receptor gene RYR1

Genotype-phenotype correlation of periodic paralysis using electrophysiologic measures

Current treatment

New treatment developments

Summary

Chapter 33: Episodic ataxias

Familial episodic ataxia syndromes

Episodic ataxia type 1 (EA1)

Episodic ataxia type 2 (EA2)

Episodic ataxia type 3 (EA3)

Episodic ataxia type 4 (EA4)

EA type 5 (EA5)

Episodic ataxia type 6 (EA6)

Episodic ataxia type 7 (EA7)

Episodic ataxia type 8 (EA8)

Late-onset episodic ataxia

Diagnostic testing for episodic ataxias

Current treatment options

Chapter 34: Disorders of sleep and circadian rhythms

Overview of sleep disorders

Narcolepsy (sleep-wake dysregulation)

Rapid eye movement (REM) sleep behavior disorder (sleep-wake dysregulation, movement disorder)

Restless-legs syndrome (movement disorder).

Fatal familial insomnia (prion disease)

Obstructive sleep apnea syndrome (physiologic issue)

Familial natural short sleepers (changes in sleep duration)

Overview of circadian rhythm sleep disorders

Familial advanced sleep phase

Delayed sleep phase disorder

Section VII: Neuromuscular disorders

Chapter 35: Facioscapulohumeral muscular dystrophy

Prevalence and mode of inheritance

Genetics

Pathophysiology

Clinical manifestations

Symptoms

Signs

Extramuscular manifestations

Clinical diagnosis

Disease progression and prognosis

Management

Chapter 36: The genetics of congenital myopathies

Nemaline myopathy

Clinical overview

Genetics overview and genotype-phenotype correlations

Disease pathomechanism(s)

Therapeutic considerations

Centronuclear myopathy

Core myopathy

Other considerations

Additional myopathy subtypes

Variants of unknown significance

New gene discovery

Disease nomenclature: histopathology versus gene mutation

Therapy development

Concluding remarks

Chapter 37: Genetic basis and phenotypic features of congenital myasthenic syndromes

Classification of the CMS

Diagnosis

Generic diagnosis

Phenotypic clues to different types of CMS

Genetic diagnosis

Presynaptic CMS

Endplate choline acetyltransferase (ChAT) deficiency

Synaptic basal lamina-associated CMS

Endplate acetylcholinesterase deficiency

Laminin beta-2 deficiency.

Postsynaptic CMS

Mutations in acetylcholine receptor

Kinetic mutations causing slow-channel syndromes

Kinetic mutations causing fast-channel syndromes

Mutations causing EP AChR deficiency

Prenatal syndromes caused by mutations in AChR subunits and other EP-specific proteins

Mutations affecting endplate development and maintenance

Mutations in agrin

Mutations in LRP4

Congenital MuSK myasthenia

DOK7 myasthenia

Rapsyn deficiency

Congenital defects of glycosylation

GFPT1 myasthenia

DPAGT1 myasthenia

ALG2 and ALG14 myasthenia

Other myasthenic syndromes

Sodium channel myasthenia

PREPL deletion syndrome

Mutations in plectin

CMS associated with congenital myopathies

Available therapies

Chapter 38: Spinal muscular atrophy

History

Clinical description

Known genetic causes

Genotype-phenotype association

Molecular pathogenesis

SMA mouse models

Current and emerging therapeutic strategies

Pharmacologic approaches

Gene replacement approaches

Cell replacement therapy

Recommendations for genetic testing of patients and carriers

Acknowledgments

Chapter 39: Emerging understanding of the genotype-phenotype relationship in amyotrophic lateral sclerosis

Genetics of amyotrophic lateral sclerosis

First ALS-associated gene discovered: superoxide dismutase 1

Most prevalent: C9ORF72 hexanucleotide repeat expansion

Pathogenic insights: TAR DNA-binding protein (TARDBP) and fused in sarcoma (FUS)

Phenotypic pleiotropy: optineurin (OPTN), Valosin-containing protein (VCP), AND sequestosome 1 (SQSTM1)

Additional gene mutations: ubiquilin 2 (UBQLN2), Profilin 1 (PFN1), Vesicle-associated membrane protein B (VAPB), AND Matrin.

Pathologic mechanisms in amyotrophic lateral sclerosis genetics.

Notes:

"3rd series."

Includes bibliographical references at the end of each chapters and index.

Description based on online resource; title from PDF title page (EBC, viewed February 5, 2018).

Description based on publisher supplied metadata and other sources.

ISBN:

9780444640772

0444640770

9780444640765

0444640762

OCLC:

1019738513