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Introduction <p>Clinical and genetic characterization of a consanguineous family with cerebellar ataxia and tremors associated with a novel pathogenic variant in the <i>KIF1C</i> gene.</p> Methods <p>We studied two generations of a family with cerebellar ataxia and tremor associated with a previously unreported variant in the <i>KIF1C</i> gene. We performed a clinical evaluation of all the available members and proceeded with genetic studies in patients with a positive clinical phenotype. A genetic analysis was also conducted, including <i>KIF1C</i> variant segregation analysis, runs of homozygosity analysis and haplotype analysis.</p> Results <p>Eleven individuals were identified, all exhibiting cerebellar tremors and ataxia with symptoms of onset around 45 years. Neuroimaging studies were unremarkable. Genetic testing revealed a homozygous <i>KIF1C</i> missense variant (NM_006612.6:c.941G &gt; T, p.(Gly314Val)) in eight patients, and haplotype analysis confirmed a shared homozygous region surrounding <i>KIF1C</i>, consistent with a founder mutation.</p> Conclusions <p>This represents the first report of this specific <i>KIF1C</i> variant, which is associated with late-onset symmetric tremor progressing to a pancerebellar syndrome. Unlike previously reported <i>KIF1C</i>-related cases (typically early-onset with prominent pyramidal signs), this cohort exhibits a later onset, rare pyramidal involvement, and no consistent neuroimaging abnormalities, thereby expanding the known clinical spectrum of <i>KIF1C</i>-associated disease.</p>

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New Founder Variant in the Kinesin Family Member 1 C (KIF1C) Gene Causes Cerebellar Ataxia and Tremor

  • 期刊论文

  • 发表日期：

    2026年7月14日

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  • Catarina Borges,
  • Sara Lima,
  • Mafalda Perdicoulis,
  • Maria do Céu Branco,
  • Rita Raimundo,
  • Mariana Ribeiro,
  • Susana Valente,
  • Paulo Silva,
  • Jorge Oliveira,
  • Ana Graça Velon

摘要

Introduction

Clinical and genetic characterization of a consanguineous family with cerebellar ataxia and tremors associated with a novel pathogenic variant in the KIF1C gene.

Methods

We studied two generations of a family with cerebellar ataxia and tremor associated with a previously unreported variant in the KIF1C gene. We performed a clinical evaluation of all the available members and proceeded with genetic studies in patients with a positive clinical phenotype. A genetic analysis was also conducted, including KIF1C variant segregation analysis, runs of homozygosity analysis and haplotype analysis.

Results

Eleven individuals were identified, all exhibiting cerebellar tremors and ataxia with symptoms of onset around 45 years. Neuroimaging studies were unremarkable. Genetic testing revealed a homozygous KIF1C missense variant (NM_006612.6:c.941G > T, p.(Gly314Val)) in eight patients, and haplotype analysis confirmed a shared homozygous region surrounding KIF1C, consistent with a founder mutation.

Conclusions

This represents the first report of this specific KIF1C variant, which is associated with late-onset symmetric tremor progressing to a pancerebellar syndrome. Unlike previously reported KIF1C-related cases (typically early-onset with prominent pyramidal signs), this cohort exhibits a later onset, rare pyramidal involvement, and no consistent neuroimaging abnormalities, thereby expanding the known clinical spectrum of KIF1C-associated disease.