Autosomal Dominant Adult Neuronal Ceroid Lipofuscinosis: a Novel Form of NCL with Granular Osmiophilic Deposits without Palmitoyl Protein Thioesterase 1 Deficiency

We describe the neuropathological and biochemical autopsy findings in 3 patients with autosomal dominant adult neuronal ceroid lipofuscinosis (ANCL, Parry type; MIM 162350), from a family with 6 affected individuals in 3 generations. Throughout the brain of these patients, there was abundant intrane...

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Vydáno v:Brain Pathol
Hlavní autoři: Nijssen, Peter C. G., Ceuterick, Chantal, van Diggelen, Otto P., Elleder, Milan, Martin, Jean‐Jacques, Teepen, Johannes L. J. M., Tyynelä, Jaana, Roos, Raymund A. C.
Médium: Artigo
Jazyk:Inglês
Vydáno: Blackwell Publishing Ltd 2006
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8095852/
https://ncbi.nlm.nih.gov/pubmed/14655761
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1750-3639.2003.tb00486.x
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