The Nervous System

The brain and nervous system form an intricate network of electrical signals that are responsible for coordinating muscles, the senses, speech, memories, thought and emotion.

Several diseases that directly affect the nervous system have a genetic component: some are due to a mutation in a single gene, others are proving to have a more complex mode of inheritance. As our understanding of the pathogenesis of neurodegenerative disorders deepens, common themes begin to emerge: Alzheimer brain plaques and the inclusion bodies found in Parkinson disease contain at least one common component, while Huntington disease, fragile X syndrome and spinocerebellar atrophy are all 'dynamic mutation' diseases in which there is an expansion of a DNA repeat sequence. Apoptosis is emerging as one of the molecular mechanisms invoked in several neurodegenerative diseases, as are other, specific, intracellular signaling events. The biosynthesis of myelin and the regulation of cholesterol traffic also figure in Charcot-Marie-Tooth and Neimann-Pick disease, respectively.

Diseases

• Adrenoleukodystrophy
• Alzheimer disease
• Amyotrophic lateral sclerosis
• Angelman syndrome
• Ataxia telangiectasia
• Charcot-Marie-Tooth syndrome
• Cockayne syndrome
• Deafness
• Duchenne muscular dystrophy
• Epilepsy
• Essential tremor
• Fragile X syndrome
• Friedreich's ataxia
• Gaucher disease
• Huntington disease
• Lesch-Nyhan syndrome
• Maple syrup urine disease
• Menkes syndrome
• Myotonic dystrophy
• Narcolepsy
• Neurofibromatosis
• Niemann-Pick disease
• Parkinson disease
• Phenylketonuria
• Prader-Willi syndrome
• Refsum disease
• Rett syndrome
• Spinal muscular atrophy
• Spinocerebellar ataxia
• Tangier disease
• Tay-Sachs disease
• Tuberous sclerosis
• Von Hippel-Lindau syndrome
• Williams syndrome
• Wilson's disease
• Zellweger syndrome