Four-repeat tau dominant pathology in a congenital myotonic dystrophy type 1 patient with mental retardation

Brain Pathol. 2018 May;28(3):431-433. doi: 10.1111/bpa.12603.

Authors

Yuri Mizuno¹, Norihisa Maeda², Hideomi Hamasaki², Hajime Arahata¹, Naokazu Sasagasako¹, Hiroyuki Honda², Naoki Fujii¹, Toru Iwaki²

Affiliations

¹ Department of Neurology, Neuro-Muscular Center, National Omuta Hospital, Fukuoka Prefecture, Japan.
² Department of Neuropathology, Graduate School of Medical Sciences, Kyushu University, Fukuoka Prefecture, Japan.

No abstract available

Publication types

Case Reports
Letter
Review

MeSH terms

Brain / pathology*
DNA Repeat Expansion*
Humans
Intellectual Disability / complications*
Male
Middle Aged
Myotonic Dystrophy / complications
Myotonic Dystrophy / genetics*
Myotonic Dystrophy / pathology*
Neurons / pathology
Protein Isoforms / genetics
tau Proteins / genetics*
tau Proteins / metabolism*

Substances

MAPT protein, human
Protein Isoforms
tau Proteins