Melissa Barghigiani

TL;DR: This study is among the largest screenings of consecutive HSP index cases enrolled in real-life clinical-diagnostic settings, and its results corroborate NGS as a modern, first-step procedure for molecular diagnosis of HSP.

TL;DR: The similarity of the described clinical picture with that of SCAR16, an autosomal recessive ataxia caused by biallelic mutations in the same gene, and of spinocerebellar ataxIA type 17, which is considered the main Huntington's disease-like syndrome is emphasized.

TL;DR: Heterozygous mutations in the STUB1 gene have recently been associated with an autosomal dominant form of spinocerebellar ataxia associated with cerebellar cognitive‐affective syndrome (CCAS), named SCA48.

TL;DR: The overlap of several clinical signs between SCAR16 and SCA48 indicates the presence of a continuous clinical spectrum among recessively and dominantly inherited mutations of STUB1, which encode the E3 ubiquitin ligase CHIP.

TL;DR: The identification of nine novel variants expands the molecular spectrum of DDHD2-related HSP and corroborates the notion of a quite homogeneous clinical and neuroradiological phenotype in spite of different genotypes.