The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal
dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance …

The hereditary ataxias are a highly heterogeneous group of disorders phenotypically
characterized by gait ataxia, incoordination of eye movements, speech, and hand …

Ethnopharmacological relevance Medicinal plants are considered as a healthcare resource
and widely used by rural people in their traditional medicine system for curing …

Loss of the ataxia-telangiectasia mutated (ATM) kinase causes cerebellum-specific
neurodegeneration in humans. We previously demonstrated that deficiency in ATM …

Highlights•RNA foci can form in both coding and non-coding microsatellite expansion
diseases.•RNA foci are dynamic structures in both the nucleus and the cytoplasm.•RNA …

This study describes the frequency of spinocerebellar ataxias and of CAG repeats range in
different geographical regions of Brazil, and explores the hypothetical role of normal CAG …

Phelan-McDermid syndrome (PMS) is characterized by a variety of clinical symptoms with
heterogeneous degrees of severity, including intellectual disability (ID), absent or delayed …

There are over 40 autosomal dominant spinocerebellar ataxias (SCAs) now identified. In this
chapter we delineate the phenotypes of SCAs 1-44 and dentatorubral-pallidoluysian atrophy …

Knowledge of primary ataxias has been growing rapidly in recent years. Here we review
different forms of primary ataxia, including inherited forms, which are subdivided into …

Background The frequency and presentation of each of the most common forms of
spinocerebellar ataxias (SCAs) varies widely. In the case of the Americas, this diversity is …