Inherited and Sporadic Ataxias

Primary and secondary ataxias

“…SCAs are predominantly caused by unstable repeat expansions in either coding (SCAs types 1, 2, 3, 6, 7, and 17, and dentatorubral-pallidoluysian atrophy) or noncoding (SCAs types 8,10, 12, 31, and 36) regions of the relevant genes [3,4,9,12,13▪]. More rarely, they are caused by conventional mutations, such as missense mutations, insertions, and deletions (SCAs types 5, 11, 13, 14, 15, 20, 23, 27, 28, and 35).…”

“…ARCAs are included in the heterogeneous group of inherited ataxias. They are typically characterized by cerebellar and spinal cord degeneration and have a relatively early age of onset [3,4,7,8]. The most common forms of ARCAs that have been genetically defined are shown in Table 1.…”

“…Although significant progress has been made in the identification of ARCA genes, the genetic cause of disease remains undetermined in about 40–50% of ARCAs [30,37,38▪,39–43]. There is no treatment for these ataxias, with the exception of ataxia due to vitamin E deficiency and a group of ataxias associated with coenzyme Q10 deficiency [3,4,37,38▪].…”

“…The commonest forms are cerebellar ataxia, in which the cerebellum and its afferent or efferent projections are affected, and afferent/sensory ataxia, in which the proprioceptive pathways are affected [1▪,2]. Cerebellar ataxia is a syndrome that includes several signs and symptoms, such as gait ataxia, dysarthria, nystagmus, tremor, and cognitive dysfunction [1▪,2–4]. Ataxias can be classified as primary or secondary, as well as hereditary or sporadic [1▪,2–4].…”

“…Cerebellar ataxia is a syndrome that includes several signs and symptoms, such as gait ataxia, dysarthria, nystagmus, tremor, and cognitive dysfunction [1▪,2–4]. Ataxias can be classified as primary or secondary, as well as hereditary or sporadic [1▪,2–4].…”