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From the Archives

Alastair Compston
DOI: http://dx.doi.org/10.1093/brain/awu156 2099-2104 First published online: 20 June 2014

Progressive spinal muscular atrophy of infants and young children. By Frederick E. Batten, M.D., F.R.C.P. Brain 1911; 33: 433–463; with Congenital familial spinal muscular atrophies and their relation to amyotonia congenita. By Knud H. Krabbe M.D. [From the Children's Department of the University Hospital (Rigs-hospitalet), and the Nerve-Polyclinic of the University Hospital, Copenhagen]. Brain 1920; 43: 166–91; with Distal type of chronic spinal muscular atrophy. Clinical, electrophysiological and pathological studies. By J. G. McLeod and J. W. Prineas (From the Department of Medicine, University of Sydney, Sydney, N.S.W., Australia). Brain 1971; 94: 703–14; with Clinical and genetic study of chronic proximal spinal muscular atrophy. By Sarah Bundey and Robert E. Lovelace (From the Moore Clinic, Johns Hopkins Hospital, Baltimore, Maryland, and the Neurological Institute, Columbia Presbyterian Hospital, New York, N.Y. 10032). Brain 1975; 98: 455–72.

It is a rare issue of Brain that does not illustrate how genetic analysis increasingly supports the classification of neurological disease; with the complexities of allelic heterogeneity, cis and trans effects, heteroplasmy, epigenetics and phenocopy each making for complexity and subtlety in understanding how mutation and polymorphism underlie symptoms and signs in the mouse cage or in the clinic. Before the advent of molecular genetics, meticulous clinical and laboratory description defined disease. There followed the high season of eponym, acronym and summary description that subtended medical nosology. In turn, the classical ‘textbook’ conditions were sculpted out of much broader accounts based on primary features that we now know to be syndromic. Take, for example, mutations of DYNC1H1—a term that does not, of itself, give much away in terms of what the mouse or the patient experience. In fact, they have distal spinal muscular atrophy. In turn, that disorder emerged from the collective of Charcot–Marie–Tooth disease, later classified through careful clinical …

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