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Article

Two more families supporting the existence of monogenic spinocerebellar ataxia 48.

Neurogenetics - 1 Jul 2024

Palombo Flavia, Vaisfeld Alessandro, Tropeano Valentina Concetta, Ormanbekova Danara, Bacchi Isabelle, Fiorini Claudio, Peruzzi Adelaide, Morandi Luca, Liguori Rocco, Carelli Valerio, Rizzo Giovanni

Abstract excerpt

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...

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PMID: 38625442
DOI: 10.1007/s10048-024-00758-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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