Spinocerebellar ataxia type 48: last but not least
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LETTER TO THE EDITOR
Spinocerebellar ataxia type 48: last but not least Giuseppe De Michele 1
&
Filippo Santorelli 2
Received: 11 July 2020 / Accepted: 7 October 2020 # Fondazione Società Italiana di Neurologia 2020
We thank Doctor Gazulla for pointing out the clinical difficulties to distinguish SCAR16 and SCA48 patients when molecular analysis does not show the presence of straightforward pathogenic variants, as in the described case [1], harboring, apparently in trans, one frameshift, with a likely impact on mRNA/protein function, and one missense, with moderate evidence of pathogenicity (meeting the PM2, PM3, PP2, PP3 ACMG criteria [2]). In our recent review [3], we retained the diagnosis of SCAR16 for the aforementioned patient (see Supplementary Table, Family P Patient 1), although we have reservations on it. Overall, this and other case presentations collected in our study [3] reinforce the impression that future functional investigations should better address how type and location of variants in STUB1 contribute to clinical expression.
Human and animal rights and informed consent This reply refers to a review of the literature which did not involve human participants and did not need informed consent.
Compliance with ethical standards
3.
Conflict of interest We have no financial interests in this manuscript. Ethical approval None.
References 1.
2.
Gazulla J, Izquierdo-Alvarez S, Sierra-Martínez E, Marta-Moreno ME, Alvarez S (2018) Inaugural cognitive decline, late disease onset and novel STUB1 variants in SCAR16. Neurol Sci 39:2231–2233. https://doi.org/10.1007/s10072-018-3545-5 Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, ACMG Laboratory Quality Assurance Committee (2015) Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405–424. https://doi.org/10. 1038/gim.2015.30 De Michele G, Galatolo D, Barghigiani M, Dello Iacovo D, Trovato R, Tessa A, Salvatore E, Filla A, De Michele G, Santorelli FM (2020) Spinocerebellar ataxia type 48: last but not least. Neurol Sci 41(Apr 27):2423–2432. https://doi.org/10.1007/s10072-020-044083
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* Giuseppe De Michele [email protected] Filippo Santorelli [email protected] 1
Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy
2
IRCCS Fondazione Stella Maris, Pisa, Italy
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