The molecular chaperone hsp90 has emerged as an important therapeutic target in cancer and neurodegenerative diseases, including the polyglutamine expansion disorders, because of its ability to regulate the activity, turnover and trafficking of many proteins. For neurodegenerative disorders associated with protein aggregation, the rationale has been that inhibition of hsp90 by geldanamycin and ...

UNLABELLED The sinonasal involvement is one of the most common manifestations in cystic fibrosis. Data show a high incidence of chronic rhinosinusitis in these patients. Although it has been found radiographic opacification of the sinus in more than 90% of cases, few are symptomatic. So that, it is difficult to recognize nasossinusal disease in patients with cystic fibrosis. Questionnaire, nasa...

Here, we used a mouse model of Kennedy disease, a degenerative disorder caused by an expanded CAG repeat in the androgen receptor (AR) gene, to explore pathways leading to cellular dysfunction. We demonstrate that male mice containing a targeted Ar allele with 113 CAG repeats (AR113Q mice) exhibit hormone- and glutamine length-dependent missplicing of Clcn1 RNA in skeletal muscle. Changes in RN...

OBJECTIVE To study the clinical presentations of Kennedy disease (KD) and compare the neurophysiological features between KD and amyotrophic lateral sclerosis(ALS). METHODS Nine patients with KD, 13 patients with ALS and 26 normal control subjects were recruited. The clinical presentations of KD were analyzed, and the results of nerve conduction studies and electromyography were compared amon...

Objective: To report a case of Pseudo-Foster Kennedy (PFK) syndrome and describe its clinical and paraclinical particularities, as well as the diagnostic difficulties and established treatment. Methods: The case of a 60-year-old male patient with sudden, painless visual impairment in the left eye (LE), and a medical history of old optic nerve atrophy in his right eye (RE) was described. Results...