Nature 344, 540 - 541 (05 April 1990); doi:10.1038/344540a0

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q1 1.2–13.3

L. M. Brzustowicz^*, T. Lehner^†, L. H. Castilla^*, G. K. Penchaszadeh^*, K. C. Wilhelmsen^*, R. Daniels^‡, K. E. Davies^‡, M. Leppert^§, F. Ziter, D. Wood^¶£, V. Dubowitz^**, K. Zerres^††, I. Hausmanowa-Petrusewicz^‡‡, J. Ott^†, T. L. Munsat^§§ & T. C. Gilliam^*

^*Departments of Psychiatry and Neurology, and^†Department of Psychiatry, Genetics and Development, Columbia University, and New York State Psychiatric Institute, New York, New York 10032, USA
^‡Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DU, UK
^§Howard Hughes Medical Institute and Department of Human Genetics, and Departments of Pediatrics and Neurology, University of Utah Medical Center, Salt Lake City, Utah 84132, USA
^¶Muscular Dystrophy Association of America, New York, New York 10019, USA
^**Royal Postgraduate Medical School, Hammersmith Hospital, London, W12, UK
^††Institute for Human Genetics, University of Bonn, FRG
^‡‡Akademia Medyczna, Klinika Nerologiczna Warsawie, Warsaw, Poland
^§§Department of Neurology, Tufts University-New England Medical Center, Boston, Massachusetts 02111, USA
^£Present address: Odyssey Biomedicai Corporation, 885 Second Avenue, New York, New York 10617, USA
To whom correspondence should be addressed

SPINAL muscular atrophy (SMA) describes a group of heritable degenerative diseases that selectively affect the -motor neuron. Childhood-onset SMAs rank second in frequency to cystic fibrosis among autosomal recessive disorders, and are the leading cause of heritable infant mortality. Predictions that genetic heterogeneity underlies the differences between types of SMA, together with the aggressive nature of the most-severe infantile form, make linkage analysis of SMA potentially complex. We have now analysed 13 clinically heterogeneous SMA families. We find that 'chronic' childhood-onset SMA (including intermediate SMA or SMA type II, and Kugelberg–Welander or SMA type III) is genetically homogeneous, mapping to chromosomal region 5ql 1.27#150;13.3.

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