| Abstract [eng] |
Spinocerebellar ataxias are rare neurodegenerative diseases that share a common symptom: cerebellar ataxia. According to the mode of inheritance, these diseases are classified as autosomal dominant, autosomal recessive and X-linked spinocerebellar ataxias. The most common of these diseases are caused by nucleotide repeat expansions. The pathogenetic mechanisms of these diseases are the formation and accumulation of toxic proteins, transcriptional dysregulation, dysfunction of autophagy, channelopathies, mitochondrial dysfunction, RNA toxic gain of function, and an impaired DNA damage response. These diseases are diagnosed on the basis of medical history, neurological examination, imaging studies and genetic testing, which is the gold standard for the diagnosis of spinocerebellar ataxia. To determine the type of spinocerebellar ataxia, a single-gene test, a multi-gene palette or whole-exome sequencing can be performed. The lesions characteristic of spinocerebellar ataxias are cortical cerebellar atrophy and/or olivopontocerebellar atrophy, which are best seen on MRI. The triad of clinical symptoms of these diseases is progressive cerebellar ataxia, nystagmus/vision problems and dysarthria. No drugs have yet been discovered to cure spinocerebellar ataxia, but clinical trials are underway to discover them. The most advanced drugs in clinical trials are troriluzole, trehalose and antisense nucleotides. For these diseases, symptomatic treatment, which includes modification of spasticity, tremor, dystonias, urinary incontinence, sexual dysfunction, depression, dysarthria, dysphagia and other symptoms, is the most important target of treatment for the moment. |
