Autosomal Recessive Cerebellar Ataxia, NGS, Classification, Diagnosis Algorithm, 50 cases

Autosomal recessive cerebellar ataxias (ARCA) belong to the wider group disorders known as inherited ataxias.ARCA are neurological disorders characterized by degeneration or abnormal development of cerebellum and spinalcord, autosomal recessive inheritance and, in most cases, early onset occurring before the age of 20. This groupencompasses a large number of rare diseases, the most frequent being Friedreich ataxia. The revolution in moleculargenetics, especially next-generation sequencing (NGS) 5 , led us to find and diagnosis of new ARCA-causing genesor novel phenotypes of known ARCA-causing genes, improving our understanding of these disorders and our abilityto diagnose them. However, NGS generates d huge data like VUS that has its problems and we will talk about that.So we need for a algorithm to assist physicians and geneticists in providing differential diagnosis of ARCAs toconfirm the diagnosis according to the NGS data. Clinical diagnosis is confirmed by ancillary tests such asneuroimaging (magnetic resonance imaging, scanning), electrophysiological examination, and mutation analysis andSanger sequencing when the causative gene is identified. Correct clinical and genetic diagnosis is important forappropriate genetic counseling and prognosis and, in some instances, pharmacological treatment. Due to autosomalrecessive inheritance, previous familial history of affected individuals is unlikely. For most ARCA there is nospecific drug treatment except for coenzyme Q10 deficiency and abetalipoproteinemia.According to this study, there is a known clinically and unknown genetically form of late-onset AR SpasticCerebellar Ataxia in Iran.

Keywords:

Cerebellar Ataxia , NGS