Muscle ceroid lipofuscin-like deposits in a patient with corticobasal syndrome due to a progranulin mutation

Mov Disord. 2017 Aug;32(8):1259-1260. doi: 10.1002/mds.27049. Epub 2017 May 22.

Authors

Affiliations

¹ IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.
² Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
³ Laboratory of Musculoskeletal Cell Biology, IOR, Bologna, Italy.
⁴ Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.

PMID: 28543767
DOI: 10.1002/mds.27049

No abstract available

Keywords: ceroid lipofuscinosis inclusions; corticobasal syndrome; frontotemporal lobar degeneration; granulin gene; lysosomal storage.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Basal Ganglia Diseases / etiology*
Basal Ganglia Diseases / genetics
Cerebral Cortex / pathology*
Humans
Male
Middle Aged
Mutation / genetics*
Neuronal Ceroid-Lipofuscinoses / complications*
Neuronal Ceroid-Lipofuscinoses / genetics*
Progranulins / genetics*

Substances

GRN protein, human
Progranulins