PT  - JOURNAL ARTICLE
AU  - A Vercruyssen
AU  - J J Martin
AU  - C Ceuterick
AU  - K Jacobs
AU  - L Swerts
TI  - Adult ceroid-lipofuscinosis: diagnostic value of biopsies and of neurophysiological investigations.
AID  - 10.1136/jnnp.45.11.1056
DP  - 1982 Nov 01
TA  - Journal of Neurology, Neurosurgery & Psychiatry
PG  - 1056--1059
VI  - 45
IP  - 11
4099  - http://jnnp.bmj.com/content/45/11/1056.short
4100  - http://jnnp.bmj.com/content/45/11/1056.full
SO  - J Neurol Neurosurg Psychiatry1982 Nov 01; 45
AB  - In a sibship of ten, three brothers presented with an adult form of ceroid-lipofuscinosis. The diagnosis was confirmed by necropsy of the first patient and was made by electron microscopy of eccrine sweat glands and of skeletal muscles in the two others. Somatosensory evoked potentials were characterised by biphasic, nearly monophasic, very high voltage complexes totally unlike those found in normal controls. Similar sensory evoked potentials were however recorded in other types of ceroid-lipofuscinosis. While electron microscopy of easily available tissues gives fairly specific results, sensory evoked potentials can bring supportive diagnostic evidence in adult ceroid-lipofuscinosis.