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Two more families supporting the existence of monogenic spinocerebellar ataxia 48

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Abstract

The reduced penetrance of TBP intermediate alleles and the recently proposed possible digenic TBP/STUB1 inheritance raised questions on the possible mechanism involved opening a debate on the existence of SCA48 as a monogenic disorder. We here report clinical and genetic results of two apparently unrelated patients carrying the same STUB1 variant(c.244G > T;p.Asp82Tyr) with normal TBP alleles and a clinical picture fully resembling SCA48, including cerebellar ataxia, dysarthria and mild cognitive impairment. This report provides supportive evidence that this specific ataxia can also occur as a monogenic disease, considering classical TBP allelic ranges.

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Acknowledgements

F.P. and V.C. were supported by the Italian Ministry of Health with the “Ricerca Corrente” funding. We are very grateful to Dr Chiara La Morgia for ophthalmological evaluation, Prof Alessandra Lugaresi and Dr. Roberta Pantieri for patients’ clinical report, and Francesco Casadei for technical support.

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Authors and Affiliations

  1. IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Via Altura 3, Bologna, 40139, Italy

    Flavia Palombo, Valentina Concetta Tropeano, Danara Ormanbekova, Claudio Fiorini & Valerio Carelli

  2. IRCCS Azienda Ospedaliero-Universitaria Policlinico Sant’Orsola-Malpighi, Medical Genetics Unit, Bologna, Italy

    Alessandro Vaisfeld, Isabelle Bacchi & Adelaide Peruzzi

  3. Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy

    Alessandro Vaisfeld, Isabelle Bacchi & Adelaide Peruzzi

  4. IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy

    Luca Morandi, Rocco Liguori & Giovanni Rizzo

  5. Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy

    Luca Morandi, Rocco Liguori & Valerio Carelli

Authors
  1. Flavia Palombo
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  2. Alessandro Vaisfeld
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  3. Valentina Concetta Tropeano
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  4. Danara Ormanbekova
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  5. Isabelle Bacchi
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  6. Claudio Fiorini
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  7. Adelaide Peruzzi
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  8. Luca Morandi
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  9. Rocco Liguori
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  10. Valerio Carelli
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  11. Giovanni Rizzo
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Correspondence to Flavia Palombo.

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Palombo, F., Vaisfeld, A., Tropeano, V.C. et al. Two more families supporting the existence of monogenic spinocerebellar ataxia 48. Neurogenetics (2024). https://doi.org/10.1007/s10048-024-00758-8

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