Primary familial brain calcification caused by MYORG mutations in an Italian family

Parkinsonism Relat Disord. 2019 Oct:67:24-26. doi: 10.1016/j.parkreldis.2019.09.021. Epub 2019 Sep 17.

Authors

Ilaria Taglia¹, Demy J S Kuipers², Guido J Breedveld², Andrea Mignarri³, Maria Teresa Dotti³, Antonio Federico³, Vincenzo Bonifati²

Affiliations

¹ Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy. Electronic address: ilaria.taglia@unisi.it.
² Erasmus MC, University Medical Center Rotterdam, Department of Clinical Genetics, Rotterdam, the Netherlands.
³ Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.

PMID: 31621601
DOI: 10.1016/j.parkreldis.2019.09.021

No abstract available

Publication types

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

MeSH terms

Aged
Basal Ganglia Diseases / diagnostic imaging
Basal Ganglia Diseases / genetics
Basal Ganglia Diseases / physiopathology
Brain Stem / diagnostic imaging
Brain Stem / physiopathology
Calcinosis / diagnostic imaging
Calcinosis / genetics*
Calcinosis / physiopathology
Cerebellar Diseases / diagnostic imaging
Cerebellar Diseases / genetics
Cerebellar Diseases / physiopathology
Dysarthria / diagnostic imaging
Dysarthria / genetics
Dysarthria / physiopathology
Female
Gait Disorders, Neurologic / diagnostic imaging
Gait Disorders, Neurologic / genetics
Gait Disorders, Neurologic / physiopathology
Glycoside Hydrolases / genetics*
Heredodegenerative Disorders, Nervous System / diagnostic imaging
Heredodegenerative Disorders, Nervous System / genetics*
Heredodegenerative Disorders, Nervous System / physiopathology
Humans
Italy
Male
Mutation
Parkinsonian Disorders / diagnostic imaging
Parkinsonian Disorders / genetics
Parkinsonian Disorders / physiopathology
Pedigree
Siblings*

Substances

Glycoside Hydrolases
MYORG protein, human