Premium
Risk estimates for developing motor neurone disease in first‐degree relatives
Author(s) -
James C. M.,
Newcombe R. G.,
Harper P. S.,
Wiles C. M.
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb03914.x
Subject(s) - motor neurone disease , first degree relatives , medicine , population , index case , family history , disease , pediatrics , spinal muscular atrophy , offspring , atrophy , epidemiology , amyotrophic lateral sclerosis , demography , pregnancy , biology , genetics , environmental health , sociology
Patients with motor neurone disease resident in the three counties of South Glamorgan, Mid Glamorgan and Gwent (total population 1 394 400) from 1/11/91 to 31/12/92, were ascertained through general practitioners and neurology department records: 62 out of 71 (51 male, 20 female) index cases ascertained agreed to be visited. These individuals were clinically reviewed, had a detailed family history taken and, after discussion, had a blood sample taken for testing for the X‐linked bulbo‐spinal muscular atrophy mutation. The period prevalence of motor neurone disease was 5.02/100 000 with a mean age of onset of 59.4 (S.D. 12.9) years. One 66‐year‐old male was found to have the X‐linked bulbospinal muscular atrophy mutation. A single, definite first‐degree relative pair was identified, of whom only one was included in the data. The index cases had a total of 131 offspring and 173 siblings. The risk estimates, by current age, for these first‐degree relatives of patients with apparently sporadic motor neurone disease decreased from 1 in 85 at age 20 years to 1 in 1683 at age 80 years. These estimates require confirmation in an independent sample, as they are based on a single “event”.