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Case Reports: Rare disease
Widening the spectrum of spinocerebellar ataxia autosomal recessive type 10 (SCAR10)
  1. Birna Ásbjörnsdóttir1,
  2. Otto Mølby Henriksen2,
  3. Suzanne Lindquist1,3,
  4. Lisbeth Birk Møller3,
  5. Annette Sidaros4,5 and
  6. Jørgen Erik Nielsen1
  1. 1Neurogenetics Clinic & Research Lab, Danish Dementia Research Centre, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
  2. 2Department of Clinical Physiology, Nuclear Medicine and PET, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
  3. 3Department of Genetics, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
  4. 4Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
  5. 5Department of Clinical Neurophysiology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
  1. Correspondence to Dr Birna Ásbjörnsdóttir; birna.asbjoernsdottir.01{at}regionh.dk

Abstract

Biallelic pathogenic variants in the ANO10 gene cause spinocerebellar ataxia recessive type 10. We report two patients, both compound heterozygous for ANO10 variants, including two novel variants. Both patients had onset of cerebellar ataxia in adulthood with slow progression and presented corticospinal tract signs, eye movement abnormalities and cognitive executive impairment. One of them had temporal lobe epilepsy and she also carried a heterozygous variant in CACNB4, a potential risk gene for epilepsy. Both patients had pronounced cerebellar atrophy on cerebral magnetic resonance imaging (MRI) and reduced metabolic activity in cerebellum as well as in the frontal lobes on 2-deoxy-2-(18F)fluoro-D-glucose positron emission tomography ((18F)FDG PET) scans. We provide comprehensive clinical, radiological and genetic data on two patients carrying likely pathogenic ANO10 gene variants. Furthermore, we provide evidence for a cerebellar as well as a frontal involvement on brain (18F)FDG PET scans which has not previously been reported.

  • neuro genetics
  • brain stem / cerebellum

http://dx.doi.org/10.1136/bcr-2021-248228

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    Footnotes

    • Contributors Conception and design: BÁ and JEN. Analysis and interpretation of data, drafting and revising of manuscript: BÁ, JEN, AS, LBM, OMH, SGL.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

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