SCA2 family presenting as typical Parkinson's disease: 34 year follow up

Young Eun Kim; Beomseok Jeon; Matthew J Farrer; Erika Scott; Ilaria Guella; Sung Sup Park; Jong Min Kim; Hye Young Park; Aryun Kim; Young Don Son; Zang Hee Cho

doi:10.1016/j.parkreldis.2017.04.003

SCA2 family presenting as typical Parkinson's disease: 34 year follow up

Parkinsonism Relat Disord. 2017 Jul:40:69-72. doi: 10.1016/j.parkreldis.2017.04.003. Epub 2017 Apr 12.

Authors

Affiliations

¹ Department of Neurology, Hallym University Sacred Heart Hospital, Hallym University College of Medicine, Anyang, Republic of Korea.
² Departments of Neurology and Movement Disorder Center, College of Medicine, Seoul National University, Seoul, Republic of Korea. Electronic address: brain@snu.ac.kr.
³ Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
⁴ Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
⁵ Departments of Neurology and Movement Disorder Center, College of Medicine, Seoul National University Bundang Hospital, Sungnam, Republic of Korea.
⁶ Departments of Neurology and Movement Disorder Center, College of Medicine, Seoul National University, Seoul, Republic of Korea.
⁷ Neuroscience Research Institute, Gachon University, Incheon, Republic of Korea.
⁸ Graduate School of Convergence Science and Technology, Seoul National University, Suwon, Republic of Korea.

PMID: 28462804
DOI: 10.1016/j.parkreldis.2017.04.003

Abstract

Objective: We describe a Korean family in SCA2 with long-duration levodopa-responsive parkinsonism without cerebellar ataxia.

Methods: Clinical evaluation, genetic testing, and extensive imaging studies were done.

Results: All family members showed a typical Parkinson's disease phenotype without cerebellar ataxia for a long disease duration (up to 34 years). Genetic testing showed 40 CAG repeats and 4 CAA interruptions which is the longest repeat number among the families or patients manifesting with a parkinsonian phenotype without ataxia. Structural imaging (7T MRI and brain CT) showed a normal cerebellum and functional images showed nigrostriatal dopaminergic degeneration and normal D2 receptor binding activity, in agreement with the clinical phenotype.

Conclusion: SCA2 should be considered as a cause of typical Parkinson's disease phenotype even in the absence of cerebellar ataxia.

Keywords: Familial Parkinson's disease; Genetic; MRI; PET; SCA2.

MeSH terms

Aged
Ataxin-2 / genetics*
Ataxins / genetics
Female
Follow-Up Studies
Genetic Predisposition to Disease*
Humans
Male
Middle Aged
Mutation / genetics*
Parkinson Disease / genetics*
Pedigree
Phenotype
Spinocerebellar Ataxias / genetics

Substances

ATXN2 protein, human
Ataxin-2
Ataxins