Samir Belal

TL;DR: Identification of the gene GAN, which encodes a novel, ubiquitously expressed protein which is predicted to adopt a β-propeller shape, predicts that gigaxonin is a novel and distinct cytoskeletal protein that may represent a general pathological target for other neurodegenerative disorders with alterations in the neurofilament network.

TL;DR: The mutation was highly unstable during transmission, with a mean increase of 10 +/- 16 CAG repeats, which was significantly greater in paternal than in maternal transmissions, and correlated well with the marked anticipation observed in the families.

TL;DR: The frequency of several clinical signs such as myoclonus, dystonia and myokymia increased with the number of CAG repeats whereas the frequency of others was related to disease duration, and instability was confirmed by the high degree of gonadal mosaicism observed in sperm DNA of one patient.

TL;DR: This work has mapped the AVED locus to proximal 8q with only three large consanguinous Tunisian families, representing to the authors' knowledge the first use of homozygosity mapping for primary linkage analysis.

TL;DR: It is established that the selective vitamin E deficiency with normal fat absorption is an autosomal recessive trait, which is associated in the two inbred Tunisian families reported here with the FA phenotype.