Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family

SCA48 is a novel spinocerebellar ataxia (SCA) originally and recently characterized by prominent cerebellar cognitive-affective syndrome (CCAS) and late-onset ataxia caused by mutations on the STUB1 gene. Here, we report the first SCA48 case from Turkey with novel clinical features and diffusion tensor imaging (DTI) findings, used for the first time to evaluate a SCA48 patient. A 65-year-old female patient with slowly progressive cerebellar ataxia, cognitive impairment, behavioral changes, and a vertical family history was evaluated. Following the exclusion of repeat expansion ataxias, whole exome sequencing (WES) was performed. Brain magnetic resonance imaging (MRI), including DTI, and single-photon emission computed tomography (SPECT) were used to study the primarily affected tracts and regions. WES revealed the previously reported heterozygous truncating mutation in ubiquitin ligase domain of STUB1 (ENST00000219548:c.823_824delCT, ENSP00000219548:p.L275Dfs*16) leading to a frameshift. Patient's cognitive status was compatible with CCAS. Novel clinical features different from the original report include later onset chorea, dystonia, general slowness of movements, apraxia, and palilalia, some of which have been recently reported in two families with different STUB1 mutations. CCAS is a prominent and often early feature of SCA48 which may be followed years after the onset of the disease by other complex neurological signs and symptoms. DTI may be helpful for demonstrating the cerebello-frontal tracts, involved in CCAS-associated SCA48, the differential diagnosis of which may be challenging especially in its early years

Brand prominence in luxury consumption: Will emotional value adjudicate our longing for status?

This study extends the existing analysis of brand prominence undertaken by Han et al (J Mark 74:15–30, 2010), to individually measure a broader range of prominence measures, including branding elements of style, design, colours, logos, and shapes, assessed across three luxury items (shoes, handbags, and belts). Perceptions of such prominence are utilized to examine how status consumption and product perceptions (including perceptions of quality and emotional value) influence consumers’ desire to purchase a range of luxury fashion goods. Results reveal that this enhanced assessment of brand prominence influences consumer perceptions of the quality of luxury goods, with quality and the status consciousness of respondents influencing the emotional value they derive from luxury goods. This emotional value in turn substantially influences purchase intentions alongside the direct influence of brand prominence. Intriguingly, significant differences are observed when comparing the level of prominence of brand elements manipulated in the data collection phase, with distinct influence evidenced across groups. The enhanced capture of brand prominence reveals to luxury practitioners that the prominence of branding extends to a range of brand elements, and that differing acknowledgment of such prominence impacts significantly on both how consumers view luxury items, and their drivers of purchase