Unusual α-synuclein and cerebellar pathologies in a case of hereditary myoclonus-dystonia without SGCE mutation

Neuropathol Appl Neurobiol. 2015 Oct;41(6):837-42. doi: 10.1111/nan.12216. Epub 2015 May 2.

Authors

Heather McCann¹, Victor S C Fung^{2

3}, Christine Klein⁴, Glenda M Halliday^{1

5}

Affiliations

¹ Sydney Brain Bank, Neuroscience Research Australia, Sydney, Australia.
² Sydney Medical School, University of Sydney, Sydney, Australia.
³ Movement Disorders Unit, Department of Neurology, Westmead Hospital, Sydney, Australia.
⁴ Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
⁵ School of Medical Sciences, UNSW Medicine, Sydney, Australia.

PMID: 25582306
DOI: 10.1111/nan.12216

No abstract available

Publication types

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

MeSH terms

Brain / pathology
Cerebellum / metabolism*
Cerebellum / pathology*
Dystonic Disorders / genetics*
Dystonic Disorders / metabolism*
Dystonic Disorders / pathology*
Female
Humans
Male
Mutation
Neurons / metabolism
Neurons / pathology
Pedigree
Sarcoglycans / genetics*
alpha-Synuclein / metabolism*

Substances

SGCE protein, human
Sarcoglycans
alpha-Synuclein

Supplementary concepts

Myoclonic dystonia