SYNE1-ataxia: clinicopathologic features of an autopsied patient with novel compound heterozygous mutations

J Neuropathol Exp Neurol. 2023 Feb 21;82(3):267-271. doi: 10.1093/jnen/nlac120.

Authors

Rie Saito¹, Norikazu Hara², Mari Tada¹, Masatoshi Wakabayashi³, Akinori Miyashita², Masatoyo Nishizawa⁴, Osamu Onodera⁴, Takeshi Ikeuchi², Akiyoshi Kakita¹

Affiliations

¹ Department of Pathology, Brain Research Institute, Niigata University, Niigata, Japan.
² Department of Molecular Genetics, Brain Research Institute, Niigata University, Niigata, Japan.
³ Department of Neurology, Ojiya Sakura Hospital, Ojiya, Japan.
⁴ Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.

PMID: 36525394
DOI: 10.1093/jnen/nlac120

No abstract available

Publication types

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

MeSH terms

Ataxia
Cerebellar Ataxia* / genetics
Cytoskeletal Proteins / genetics
Humans
Mutation / genetics
Nerve Tissue Proteins / genetics
Phenotype

Substances

SYNE1 protein, human
Cytoskeletal Proteins
Nerve Tissue Proteins