Article
Evidence for Cholinergic Dysfunction in Autosomal Dominant Kufs Disease.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques - 1 Mar 2018
Jarrett Pamela, Easton Alexander, Rockwood Kenneth, Dyack Sarah, McCollum Alexander, Siu Victoria, Mirsattari Seyed M, Massot-Tarrús Andreu, Beis M Jill, D'Souza Nolan, Darvesh Sultan
Abstract excerpt
OBJECTIVE: Neuronal ceroid-lipofuscinoses are a heterogeneous group of inherited disorders in which abnormal lipopigments form lysosomal inclusion bodies in neurons. Kufs disease is rare, and clinical symptoms include seizures, progressive cognitive impairment, and myoclonus. Most cases of Kufs disease are autosomal recessive; however, there have been a few case reports of an autosomal dominant form linked to...
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