WebEx seminario - Pharmacological and nutraceutical approaches to contrast SCA3 disease

Dipartimento di Biotecnologie e Bioscienze, UNIMIB

Ospite: Maria Elena Regonesi

Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of autosomal dominant cerebellar ataxia, a neurodegenerative disorder characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations. The disease is associated with a CAG repeat expansion mutation in the ATXN3 gene (14q21) with the anticipation phenomenon. Diagnosis is based on the clinical picture, familial history and ultimately on genetic testings that detect expanded CAG repeats. SCA3 follows an autosomal dominant pattern of inheritance with full penetrance and the anticipation phenomenon. Genetic counselling is recommended in symptomatic patients or those with a family history of the disorder due to known SCA mutations, and pre-symptomatic testing should be discussed in adults. In the absence of specific treatments to retard or stop disease progression, care is supportive and the outcome is lethal.

Il link per partecipare all’evento sarà pubblicato a breve.

#RegonesiLab_BtBs, #SCA3, #neurodegenerative, #Spinocerebellar, #ataxia, #ATXN3, #14q21