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Article

VPS13D-based disease: Expansion of the clinical phenotype in two brothers and mutation diversity in the Turkish population.

Revue neurologique - 1 Nov 2022

Öztop-Çakmak Ö, Şimşir G, Tekgül Ş, Aygün M S, Gökler O, Kahyaoğlu B, Kaya Z E, Palvadeau R, Başak A N, Ertan S

Abstract excerpt

VPS13D is a recently described gene. Worldwide, only 15 families with 23 affected individuals have been reported with a VPS13D-based disease. Mutated VPS13D causes a complex phenotype with a hyperkinetic movement disorder and ataxia, especially in childhood onset disease. The clinical phenotype of the rare adult-onset cases consists of cerebellar ataxia and/or spastic paraplegia. Here, we report the extensive...

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PMID: 36156252
DOI: 10.1016/j.neurol.2022.05.005

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