Neurodegenerative diseases are characterized by the increasing dysfunction and death of
neurons, resulting in progressive impairment of a person's mobility and/or cognition. Protein …

ABSTRACT Background and Objectives Spinocerebellar ataxias (SCAs) are autosomal
dominant disorders with extensive clinical and genetic heterogeneity. We recently identified …

The term hereditary ataxia (HA) refers to a heterogeneous group of neurological disorders
with multiple genetic etiologies and a wide spectrum of ataxia-dominated phenotypes …

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 …

Background Monoallelic, pathogenic STUB1 variants cause autosomal dominant cerebellar
ataxia (ATX‐STUB1/SCA48). Recently, a genetic interaction between STUB1 variants and …

The association of cerebellar ataxia and hypogonadism occurs in a heterogeneous group of
disorders, caused by different genetic mutations often associated with a recessive …

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

Background Biallelic STUB1 variants are a well-established cause of autosomal-recessive
early-onset multisystemic ataxia (SCAR16). Evidence for STUB1 variants causing autosomal …

Background Spinocerebellar ataxias (SCAs) encompass a wide spectrum of inherited
neurodegenerative diseases, primarily characterized by pathological changes in the …

Clinically-relevant variants in the STUB1 gene have been associated with an autosomal
dominant spinocerebellar ataxia 48 (SCA48), a recently described inherited …