Practical Guide to Neurogenetics book cover

Practical Guide to Neurogenetics

This Practical Guide will adopt a symptom-based approach allowing the clinician to reach a relevant differential diagnosis and give appropriate genetic counseling. It will also inform as to which genetic tests are available, with emphasis on understanding the value and need for such tests.

Most contemporary texts are multi-author and often lack a themed and consistent approach to the patient. The purpose of this book is not to provide an exhaustive list to all known mutations, but to guide the physician through the process of diagnosing, counseling and, if necessary, molecular genetic testing the individual with, or at risk of, a neurogenetic condition.

Audience
Neurology

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Published: September 2008

Imprint: Saunders

ISBN: 978-0-7506-5410-4

Contents

  • Introduction: basics of genetics; molecular biology; Genetic counseling and testing: basics and rationale for testing; Dementia: Alzheimer?s, Pick?s, Prions;Epilepsy: Primary generalised, Benign epilepsies, Juvenile myoclonic epilepsy, Progressive myoclonic epilepsy; Vision: Genetic optic atrophies (including Leber?s), Retinitis pigmentosa; Ataxia: Friedreichs?, Spinocerebellar ataxia (SCA?s) , episodic ataxias (EA 1 and 2), degenerative (xeroderma pigmentosa and ataxia telangiectasia), metabolic (abetalipoproteinemia, cholestanolosis etc); Disorders of myelin: Multiple sclerosis and leukodystrophies; Movement Disorders: Chorea (including Huntington?s), Parkinsonism, Dystonia, Tremor, myoclonus, tics (Tourettes), mixed movement disorders (Wilson?s disease, neuroacanthocytosis etc); Spasticity: Cerebral Palsy, Hereditary Spastic Paraplegia; Motor Neuron Disease: Amyotrophic lateral sclerosis, Spinal Muscular atrophy, X-linked spinobulbar neuronapathy; Neuropathy: Hereditary motor and sensory neuropathies, Hereditary Sensory neuropathies, Hereditary Liability to pressure palsies, Familial amyloid polyneuropthies; Muscle: Myotonias, Periodic paralyses, malignant hyperthermia/central core, dystrophies and sarcoglycanopathies, Emory-Dreifuss, congenital myopathies, metabolic disorders (glycogen storage etc);Cerebrovascular disease: Subarachnoid haemorrhage and aneurysms, Arteriovenous malformations, Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); Neuro-oncology: neuroblastoma, Neurofibromatosis types 1 and 2, Von Hippel Lindau disease, neuronal tumours; Neurocutaneous: Tuberose sclerosis, Sturge-Weber, incontinetia pigmenti etc; Mitochondrial disease; Metabolic/degenerative disease of childhood: peroxisomal, mucopolysaccharidoses, mucolipidoses, Niemann-Pick, amino and organic acidaemias, purines and porphyrias; Chromosomal: Down?s, fragile X; Appendices: Lay societies ? addresses/web sitesNeurogenetic centres ? advice on testing/referrals

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