Information on achieving presymptomatic diagnosis of spinocerebellar ataxia (SCA) is limited. The advent of molecular diagnosis makes it possible to identify the carriers of different diseases and has also introduced the prospect of detecting diseases even before their onset. This has drawn attention to the ethical implications that must be considered in these subjects with a view to preserving their physical and psychological well-being. SCA is composed of a group of neurodegenerative disorders with autosomal dominant inheritance. Only a few publications have described the genetic counselling processes and guidelines to be followed during the process of presymptomatic diagnosis (PSD). The size of the multidisciplinary teams, their areas of expertise, and the number of counselling sessions are different for each of the studies analysed here. However, the basis of presymptomatic diagnosis originates in common guidelines to which members of our team have contributed recently. Presymptomatic diagnosis should be performed according to guidelines that safeguard the subjects' welfare. The diagnostic process is only recommended for patients over 18 years old with symptoms suggesting SCA, and a minimum risk of 50%. Genetic counselling programmes must be available in all centres that offer presymptomatic diagnosis of SCA.

The non-syndromic anterior cervical hypertrichosis (OMIM N° 600457) is a genetic disorder characterized by a patch of hair at the level of the laryngeal prominence. We present a 12-year-old boy with anterior cervical hypertrichosis and mild generalized hypertrichosis. He has no neurological, ophthalmological or skeletal anomalies. The clinical follow up is 10 years.

Background: The absence of Fragile X Mental Retardation Protein (FMRP) causes Fragile-X syndrome (FXS), the most frequent form of inherited intellectual disability. Recent evidence suggests that individuals with FXS have a decreased risk of developing cancer, and overexpression of FMRP has been linked to cancer progression. The aim of the present study is to examine the expression of multiple Wnt/β-catenin pathway components in FXS patients. Methods: Fifteen molecularly confirmed FMR1 full-mutation males and 15 age-matched male controls were studied. Total RNA from peripheral blood mononuclear cells (PBMCs) was used to quantify the expression of 15 Wnt/β-catenin pathway genes by real-time PCR (qPCR), and Western blot analysis was performed to assess β-catenin protein in nuclear and cytoplasmic PBMC fractions. Results: WNT7A, PPP2R5C, FOSL1, and JUN showed significantly reduced expression in FXS patients versus controls. Western blot consistently detected a ~60–65 kDa immunoreactive band, rather than full-length β-catenin, in cytoplasmic fractions of both groups, with nuclear presence in a subset of patients. Conclusions: These findings suggest dysregulation of the Wnt/β-catenin signaling pathway in FXS patients and identify a potentially novel molecular alteration in β-catenin that deserves further investigation.