RT Journal Article
SR Electronic
T1 Symmetrical infantile thalamic degeneration in two sibs
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 448
OP 450
DO 10.1136/jmg.18.6.448
VO 18
IS 6
A1 Abuelo, Dianne N
A1 Barsel-Bowers, Gail
A1 Tutschka, Barbara G
A1 Ambler, Mary
A1 Singer, Don B
YR 1981
UL http://jmg.bmj.com/content/18/6/448.abstract
AB This is the first observation of two cases of symmetrical infantile thalamic degeneration with cell mineralisation in a family. Although it cannot be established at present, autosomal recessive inheritance of a metabolic error causing or predisposing to damage to specific areas of the central nervous system is a possible aetiology for this condition.