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This simple guide to neurogenetics demystifies the overwhelming amount of information on the subject so you can identify key clinical features and understand your management options. Reach relevant differential diagnoses and provide appropriate counseling to your patients using the symptom-based approach. By integrating genetic and neurological approaches to diagnoses, this book ensures that the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis are clear and explicit. Concise and portable, this book is ideal for easy reference in clinical use.
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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.
