The tau gene A0 allele and progressive supranuclear palsy.

Background: Recent studies have shown an association between a polymorphic tandem repeat allele, located in intron 9, of the tau gene and progressive supranuclear palsy (PSP).

Objective: To investigate this tau polymorphism in individuals with a clinical diagnosis of sporadic or familial PSP as well as in cases confirmed by pathology.

Methods: We analyzed the frequency of tau intronic polymorphism, the presence of linkage in two families with multiple cases of PSP, the splicing of exon 10, and direct sequence of the tau gene.

Botulinum toxin treatment for spasmodic dysphonia: percutaneous versus transoral approach.

Spasmodic dysphonia (SD) is at present defined as focal dystonia. Botulinum toxin (BT) injection is the treatment of choice for SD. BT is usually injected by a percutaneous route, but a direct, visually guided transoral approach has also been successful.

[Laryngeal dystonia. Comparison of transcutaneous and transoral injection of botulinum toxin].

Spasmodic dysphonia is a focal dystonia that effects the proximal muscles (adduction dystonia) or dilatory (abduction dystonia) of the larynx. Botulinum toxin (BTX), generally delivered by percutaneous injection, is the treatment of choice. Recently, use has been made of a transoral route of delivery, with BTX injected through a curved device with visual control.

Somatic stability in chorionic villi samples and other Huntington fetal tissues.

We have studied different tissues from two affected fetuses with Huntington's disease (HD). In the first case the analysis was performed at 11 weeks of pregnancy; CAG repeats from seven different tissues were compared with the results obtained in the chorionic villi sample (CVS). We found 42 CAG repeats in all samples.