PT  - JOURNAL ARTICLE
AU  - Proops, R
AU  - Green, S H
TI  - Neuronal ceroid lipofuscinosis and arthropathy: a family study.
AID  - 10.1136/jmg.18.2.101
DP  - 1981 Apr 01
TA  - Journal of Medical Genetics
PG  - 101--104
VI  - 18
IP  - 2
4099  - http://jmg.bmj.com/content/18/2/101.short
4100  - http://jmg.bmj.com/content/18/2/101.full
SO  - J Med Genet1981 Apr 01; 18
AB  - A family is described in which three children have neuronal ceroid lipofuscinosis and two of them also have an arthropathy. Clinically the children have the late infantile form but pathological evidence shows the recognised overlap with the juvenile form. A fourth child with joint involvement but with normal skin biopsies is described. It is suggested that this family have a specific form of neuronal ceroid lipofuscinosis with arthropathy and that accumulation of metabolites in this storage disease may be age dependent.