Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

Conclusions:
Diagnosis of ANCL remains challenging; expert pathologic analysis and recent molecular genetic advances revealed misdiagnoses in >1/3 of cases. We now have a refined group of cases that will facilitate identification of new causative genes.

Source: Neurology - August 7, 2016 Category: Neurology Authors: Berkovic, S. F., Staropoli, J. F., Carpenter, S., Oliver, K. L., Kmoch, S., Anderson, G. W., Damiano, J. A., Hildebrand, M. S., Sims, K. B., Cotman, S. L., Bahlo, M., Smith, K. R., Cadieux-Dion, M., Cossette, P., Jedlickova, I., Pristoupilova, A., Mole, S Tags: All Movement Disorders, All Cognitive Disorders/Dementia ARTICLE Source Type: research