There is currently no accepted classification of autosomal recessive cerebellar ataxias, a
group of disorders characterized by important genetic heterogeneity and complex …

Autosomal-recessive cerebellar ataxias (ARCAs) comprise a heterogeneous group of rare
degenerative and metabolic genetic diseases that share the hallmark of progressive …

The increase of HSPs and HCAs-related phenotypes and the continuous discovery of genes
complicate clinical diagnostic in practice but, at the same time, it helps highlighting common …

Background In rare disorders diagnosis may be delayed due to limited awareness and
unspecific presenting symptoms. Herein, we address the issue of diagnostic delay in …

The recessive cerebellar ataxias are a large group of degenerative and metabolic disorders,
the diagnostic management of which is difficult because of the enormous clinical and …

Purpose Cerebellar ataxias are a large and heterogeneous group of disorders. The
evaluation of brain parenchyma via MRI plays a central role in the diagnostic assessment of …

This narrative review aims at providing an update on the management of inherited
cerebellar ataxias (ICAs), describing main clinical entities, genetic analysis strategies and …

Abstract Peroxiredoxin 3 (PRDX3) encodes a mitochondrial antioxidant protein, which is
essential for the control of reactive oxygen species homeostasis. So far, PRDX3 mutations …

A variety of etiologies can cause cerebellar dysfunction, leading to ataxia symptoms.
Therefore, the accurate diagnosis of the cause for cerebellar ataxia can be challenging. A …

ABSTRACT alpha‐Fetoprotein (AFP) is a biomarker of several autosomal recessive
cerebellar ataxias (ARCAs), especially ataxia telangiectasia (AT) and ataxia with oculomotor …