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

ABSTRACT:

Objective

To critically re-evaluate cases diagnosed as adult neuronal ceroid lipofuscinosis (ANCL) in order to aid clinicopathologic diagnosis as a route to further gene discovery.

Methods

Through establishment of an international consortium we pooled 47 unsolved cases regarded by referring centers as ANCL. Clinical and neuropathologic experts within the Consortium established diagnostic criteria for ANCL based on the literature to assess each case. A panel of 3 neuropathologists independently reviewed source pathologic data. Cases were given a final clinicopathologic classification of definite ANCL, probable ANCL, possible ANCL, or not ANCL.

Results

Of the 47 cases, only 16 fulfilled the Consortium's criteria of ANCL (5 definite, 2 probable, 9 possible). Definitive a

SUBMITTER: Berkovic SF 

PROVIDER: S-EPMC4977374 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature