Spinocerebellar ataksisinde Levodopa duyarlı parkinsonizm 27B

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Abstract Background: Spinocerebellar ataxia 27B (SCA27B) is a recently characterised cause of individuals presenting with late onset cerebellar ataxia. Here, we present a case of late onset cerebellar ataxia with associated Parkinsonism that is responsive to levodopa. Case presentation: A 65 year-old female presents with a progressive deterioration in her gait secondary to truncal ataxia since the age of 62 years. Throughout the course of her illness, she developed asymmetrical parkinsonism, bowel and bladder incontinence, and had a background of parasomnias preceding her presentation and also a family history of late onset parkinsonism and early onset cognitive impairment. Brain magnetic resonance imaging revealed atrophy of the midbrain, PONS, and middle cerebellar peduncles. Genetic testing confirmed a pathogenic triplet repeat within the FGF14 gene consistent with a diagnosis of SCA27B. Levodopa was commenced for her parkinsonism, with improvement in the speed and amplitude of her movements, and restoration of partial independence. Conclusion SCA27B should be considered in individuals presenting with late onset ataxia, and may mimic alternate neurodegenerative conditions. This case report demonstrates that associated parkinsonism may be responsive to levodopa.

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