Late Diagnosis of Wilson Disease, Initially Presenting as Cerebellar Atrophy Mimicking Spinocerebellar Ataxia, by Multigene Panel Testing

Ann Lab Med. 2020 Nov;40(6):500-503. doi: 10.3343/alm.2020.40.6.500. Epub 2020 Jun 17.

Authors

Min-Kyeong Kim¹, Kyunghoon Lee¹, Hee-Yeon Woo¹, Hyosoon Park¹, Suho Ro², Won Tae Yoon², Min-Jung Kwon¹

Affiliations

¹ Department of Laboratory Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.
² Department of Neurology, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.

No abstract available

Publication types

Letter

MeSH terms

Adult
Base Sequence
Brain / diagnostic imaging
Cerebellar Ataxia / genetics
Cerebellar Ataxia / pathology*
Copper-Transporting ATPases / genetics
Delayed Diagnosis
Hepatolenticular Degeneration / diagnosis*
Hepatolenticular Degeneration / genetics
High-Throughput Nucleotide Sequencing
Humans
Magnetic Resonance Imaging
Male
Polymorphism, Single Nucleotide
Sequence Analysis, DNA
Spinocerebellar Ataxias / genetics
Spinocerebellar Ataxias / pathology

Substances

ATP7B protein, human
Copper-Transporting ATPases