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Purkinje cell loss is the major brain pathology of spinocerebellar ataxia type 10
  1. Guangbin Xia1,
  2. Karen N McFarland1,
  3. Kang Wang2,
  4. Partha S Sarkar3,
  5. Anthony T Yachnis4,
  6. Tetsuo Ashizawa1
  1. 1 Department of Neurology and The McKnight Brain Institute, College of Medicine, University of Florida, Gainesville, Florida, USA
  2. 2 Department of Neurology, China-Japan Friendship Hospital, Beijing, China
  3. 3 Department of Neuroscience, School of Medicine, UTMB, Galveston, Texas, USA
  4. 4 Department of Pathology, College of Medicine, University of Florida, Gainesville, Florida, USA
  1. Correspondence to Dr Tetsuo Ashizawa, Department of Neurology, College of Medicine, University of Florida, Room L3-100, McKnight Brain Institute, 1149 S. Newell Drive, Gainesville, FL 32611, USA; tetsuo.ashizawa{at}neurology.ufl.edu

https://doi.org/10.1136/jnnp-2013-305080

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    Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant cerebellar degenerative disorder, variably associated with epilepsy.1 The mutation responsible for SCA10 is an expansion of an ATTCT repeat in intron 9 of the ATXN10 gene on chromosome 22q13.3.2 Although brain MRI of SCA10 patients show isolated cerebellar atrophy, histopathological changes in the brain of SCA10 patients remain unknown. Here, we report the postmortem neuropathological findings of an SCA10 patient and compare these with a normal age and gender-matched control subject.

    Subject and methods

    The patient was a 42-year-old Mexican-American man with the diagnosis of SCA10 based on the presence of 2350 ATTCT repeats. Gait ataxia started at 26 years of age followed by the development of complex partial seizures with occasional secondary generalisation. An examination at age 30 showed normal mental status and typical symptoms and signs of cerebellar ataxia with MRI findings showing cerebellar atrophy without other abnormalities. Ataxia progressed and his seizures were poorly controlled even with multiple anticonvulsants and a vagal nerve stimulator. Shortly before his death, he was wheelchair bound. He developed aspiration pneumonia, which was subsequently complicated by multiple organ failure, and died after staying in the ICU for 7 days. With family's consent for autopsy, the brain was removed 3 h postmortem. Samples were taken from cerebral cortex, hippocampus, brainstem and cerebellum. A …

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    Footnotes

    • Contributors GX: performed autopsy, histopathology; analysed data; wrote manuscript. KNM: analysed data; revised manuscript. KW: performed experiments. ATY: aided in histopathological analysis; revised manuscript. PSS: assisted in sample acquitisiton. TA: oversaw project; analysed data; wrote manuscript.

    • Funding Supported by NIH R01NS041547 (TA) and R01NS083564.

    • Patient consent Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.