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<p>Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) and spinocerebellar ataxia type 27B (SCA27B) are two increasingly recognized types of late-onset ataxia caused by biallelic <i>RFC1</i> AAGGG and heterozygous <i>FGF14</i> GAA repeat expansions, respectively. We describe three siblings of Greek-Cypriot origin with late-onset cerebellar ataxia. Two brothers carried biallelic pathogenic <i>RFC1</i> AAGGG expansions and heterozygous <i>FGF14</i> GAA expansions (338–350 repeats), establishing a dual diagnosis of CANVAS and SCA27B. Both presented with progressive gait ataxia, vestibular dysfunction, and sensory neuronopathy; one also reported episodic symptoms typical of SCA27B. Their sister, heterozygous for <i>RFC1</i> and carrying a pathogenic <i>FGF14</i> expansion (325 repeats), showed a pure SCA27B phenotype with episodic fluctuations, but without neuropathy or vestibular involvement. Brain MRI in all three demonstrated mild-to-moderate vermian atrophy.&#xa0;To our knowledge, this is the first documented report of co-occurring CANVAS and SCA27B in the same individuals. The findings expand the phenotypic spectrum of late-onset ataxia and highlight the importance of continued genetic testing, even after an initial diagnosis has been made.</p>

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First Report of Co-Occurring FGF14 (SCA27B) and RFC1 (CANVAS) Repeat Expansions in Two of Three Siblings with Late-Onset Cerebellar Ataxia

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月21日

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  • Tasos Tsokkos,
  • Kyproula Christodoulou,
  • Christina Votsi,
  • Anthi Georghiou,
  • Andrea Christofides,
  • Astero Constantinou,
  • Eleni Zamba-Papanicolaou

摘要

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) and spinocerebellar ataxia type 27B (SCA27B) are two increasingly recognized types of late-onset ataxia caused by biallelic RFC1 AAGGG and heterozygous FGF14 GAA repeat expansions, respectively. We describe three siblings of Greek-Cypriot origin with late-onset cerebellar ataxia. Two brothers carried biallelic pathogenic RFC1 AAGGG expansions and heterozygous FGF14 GAA expansions (338–350 repeats), establishing a dual diagnosis of CANVAS and SCA27B. Both presented with progressive gait ataxia, vestibular dysfunction, and sensory neuronopathy; one also reported episodic symptoms typical of SCA27B. Their sister, heterozygous for RFC1 and carrying a pathogenic FGF14 expansion (325 repeats), showed a pure SCA27B phenotype with episodic fluctuations, but without neuropathy or vestibular involvement. Brain MRI in all three demonstrated mild-to-moderate vermian atrophy. To our knowledge, this is the first documented report of co-occurring CANVAS and SCA27B in the same individuals. The findings expand the phenotypic spectrum of late-onset ataxia and highlight the importance of continued genetic testing, even after an initial diagnosis has been made.