De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability

I.G.M. Wijnen, H.E. Veenstra-Knol, F. Vansenne, E.H. Gerkes, T. de Koning, Y.J. Vos, M.A.J. Tijssen, D. Sival, N. Darin, E.K. Vanhoutte, M. Oosterloo, M. Pennings, B.P. van de Warrenburg, E.J. Kamsteeg*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

3 Citations (Web of Science)


Previously, intragenic CAMTA1 copy number variants (CNVs) have been shown to cause non-progressive, congenital ataxia with or without intellectual disability (OMIM#614756). However, ataxia, intellectual disability, and dysmorphic features were all incompletely penetrant, even within families. Here, we describe four patients with de novo nonsense, frameshift or missense CAMTA1 variants. All four patients predominantly manifested features of ataxia and/or spasticity. Borderline intellectual disability and dysmorphic features were both present in one patient only, and other neurological and behavioural symptoms were variably present. Neurodevelopmental delay was found to be mild. Our findings indicate that also nonsense, frameshift and missense variants in CAMTA1 can cause a spastic ataxia syndrome as the main phenotype.
Original languageEnglish
Pages (from-to)763-769
Number of pages7
JournalEuropean Journal of Human Genetics
Issue number6
Publication statusPublished - 1 Jun 2020


  • mutations
  • paraplegias
  • transcription

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