Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency

This is the first neuropathology report of a male patient (born 1960–died 1975) with an extremely rare, atypical variant of CLN2 that has been diagnosed only in five families so far. The clinical history started during his preschool years with relatively mild motor and psychological difficulties, bu...

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Detalles Bibliográficos
Autores principales: Elleder, Milan, Dvořáková, Lenka, Stolnaja, Larisa, Vlášková, Hana, Hůlková, Helena, Druga, Rastislav, Poupětová, Helena, Košťálová, Eva, Mikuláštík, Josef
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2008
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2956886/
https://www.ncbi.nlm.nih.gov/pubmed/18283468
http://dx.doi.org/10.1007/s00401-008-0349-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2956886/
https://www.ncbi.nlm.nih.gov/pubmed/18283468
http://dx.doi.org/10.1007/s00401-008-0349-3

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