Highlights•Cognitive impairment in SCAs is well-established, but not universal in all
patients.•The CCAS Scale is the current standard for identifying cognitive impairments in …

Spinocerebellar ataxias (SCAs) are a group of hereditary neurodegenerative diseases
mostly affecting cerebellar Purkinje cells caused by a wide variety of different mutations. One …

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

Spinocerebellar ataxia type 14 (SCA14) is a neurodegenerative disease caused by
germline variants in the diacylglycerol (DAG)/Ca2+-regulated protein kinase Cγ (PKCγ) …

Excessive stride variability is a characteristic feature of cerebellar ataxias, even in pre-ataxic
or prodromal disease stages. This study explores the relation of variability of arm swing and …

Background Hereditary spinocerebellar ataxias are a group of genetic neurological
disorders that result in degeneration of the cerebellum and brainstem, leading to difficulty in …

Neurologists have a difficult time identifying sporadic cerebellar ataxia. Multiple system
atrophy of the cerebellar type (MSA-C), spontaneous late cortical cerebellar atrophy, and …

Protein kinase C (PKC) isozymes transduce myriad signals within the cell in response to the
generation of second messengers from membrane phospholipids. The conventional …

Introduction: PRKCG mutations have been implicated in the pathogenesis of spinocerebellar
ataxia type 14 (SCA14), which is a rare autosomal dominant disease marked by cerebellar …

Purpose To report on a patient with spinocerebellar ataxia type 14 (SCA14) and macular
dystrophy with identification of a novel PRPH2 variant. Methods Case report. Results A 63 …