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

Authors :: Kim MK
Lee K
Woo HY
Park H
Ro S
Yoon WT
Kwon MJ
Source :: Annals of laboratory medicine [Ann Lab Med] 2020 Nov; Vol. 40 (6), pp. 500-503. Date of Electronic Publication: 2020 Jun 17.
Publication Year :: 2020

Subjects :: Adult
Base Sequence
Brain diagnostic imaging
Cerebellar Ataxia genetics
Copper-Transporting ATPases genetics
Delayed 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
Cerebellar Ataxia pathology
Hepatolenticular Degeneration diagnosis

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