Cerebellar and afferent ataxias present with a characteristic gait disorder that reflects
cerebellar motor dysfunction and sensory loss. These disorders are a diagnostic challenge …

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 …

The effective therapeutic treatment and the disease-modifying therapy for spinocerebellar
ataxia type 2 (SCA2)(a progressive hereditary disease caused by an expansion of …

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

Objectives Genetic variant classification is a challenge in rare adult‐onset disorders as in
SCA‐PRKCG (prior spinocerebellar ataxia type 14) with mostly private conventional …

Purpose A new form of autosomal dominant hereditary spinocerebellar ataxia (SCA) has
been recently described (SCA48), and here we investigate its conventional MRI findings to …

Introduction Spinocerebellar ataxia type 14 (SCA14) is a dominantly inherited neurological
disorder characterized by slowly progressive cerebellar ataxia. SCA14 is caused by …

Autosomal recessive cerebellar ataxias (ARCAs) are a heterogeneous group of
neurodegenerative disorders affecting primarily the cerebellum and/or its afferent tracts …

The complexity in diagnosing hereditary degenerative ataxias lies not only in their rarity, but
also in the variety of different genetic conditions that can determine sometimes similar and …

Ataxia with oculomotor apraxia type 2 (AOA2), recently renamed as ATX-SETX, is an
autosomal recessive, progressive neurodegenerative disorder belonging to inherited …