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51 - The genetics of amyotrophic lateral sclerosis

from Part IX - Motor neuron diseases

Published online by Cambridge University Press:  04 August 2010

M. Flint Beal
Cornell University, New York
Anthony E. Lang
University of Toronto
Albert C. Ludolph
Universität Ulm, Germany
Ammar Al-Chalabi
Department of Neurology, Institute of Psychiatry, London, UK
Robert H. Brown
Cecil B. Day Neuromuscular Laboratory, Massachusetts General Hospital East, Charlestown, MA, USA
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Models of inheritance

The genetics of a disease such as amyotrophic lateral sclerosis (ALS) require some flexibility in thinking about familiality compared with the genetics of isolated cases. About 10% of the time, an individual who develops ALS also has first-degree relatives who have been affected. For the remainder, the disease is said to be sporadic, but detailed investigation of the family tree may occasionally reveal that cousins or other more distant relatives have been affected. ALS can therefore be seen as a disease with an inheritance pattern that lies on a continuum from sporadic disease, to familial clustering to clear Mendelian familiality. For simplicity we have maintained the conventional separation of familial and sporadic disease, but as will become obvious, this distinction is largely artificial.

Familial ALS and the first descriptions

The concepts of genetics were coming into being at about the same time as the earliest descriptions of motor neuron diseases. Mendel presented his classic paper in 1865 (Mendel, 1865) in which he described his famous sweet pea hybridization experiments. He did not use the term gene or genetic to describe the heritable units but called them “formative elements.” Cambridge Professor of Biology William Bateson coined the term “genetics” (from the Greek “to generate”) in 1905 when applying for a university chair in a letter to the Cambridge zoologist, Adam Sedgwick. He wrote, “Such a word is badly wanted and if it were desirable to coin one, Genetics might do.”

Neurodegenerative Diseases
Neurobiology, Pathogenesis and Therapeutics
, pp. 758 - 771
Publisher: Cambridge University Press
Print publication year: 2005

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