Comparison of cognitive profiles in spinocerebellar ataxia subtypes: a case series

Abstract

Background The spinocerebellar ataxias (SCA) are a heterogeneous group of progressive neurodegenerative disorders that are associated with diffuse cerebellar atrophy. While the physical symptoms of this condition have long been studied, more attention has been given to cognitive changes in recent years. We describe a case series of four adults with various genetically-confirmed subtypes of SCA. Case presentation Patients with SCA types 2, 3, and 6 presented with impaired cognitive profiles consistent with the existing literature while the reported patient with SCA-14 showed notable impairment inconsistent with the only published case controlled study. Conclusions Comparisons were made between the four patients with a common pattern of slowed processing speed, poor memory retrieval, and reduced mental flexibility. Confrontation naming and consolidation-based memory were intact across all patients. These findings are discussed in light of the relevant literature on cerebellar cognitive affective syndrome.

Are Socio-Affective Impairments in Ataxia Related to Language and Processing Speed Deficits?

“…More especially, their cognitive speed was reduced in two versions of a verbal naming task and their word fluency decreased compared to controls. These findings are in line with previous research reporting impaired processing speed and fluency in SCA2 patients 29 , in SCA3 patients 26 , and in both genotypes 6,25 . In a follow-up study, Moriarty and collaborators 8 reported more important difficulties in SCA3 compared to SCA2 patients.…”

“…Some studies have described these abilities more extensively in specific genotypes. A case study observed slowed processing speed and reduced mental flexibility in SCA2, 3 and 6 patients 25 . Significant deficits in executive function processing speed and letter fluency were described in SCA3 patients, and letter fluency was shown to be correlated with functional neuroimaging measures 26 .…”

Neuropsychology of Spinocerebellar Ataxia Type 2, a Case Study in Stage I Disease

“…Spinocerebellar Ataxia Type 2 (SCA2) is characterized by a cerebellar syndrome associated with slow saccades, early hyporeflexia, severe postural tremor, peripheral neuropathy, cognitive impairments, and other multisystem features [7]. In this sense, the scientific literature consulted supports the presence of cognitive alterations in SCA2 [2,4,15,20,27]. However, despite being one of the most frequent forms of hereditary ataxias, its approach from the field of study of Neuropsychology is insufficient.…”

Novel mutation in exon11 of PRKCG (SCA14): A case report

“…Spinocerebellar ataxia type 14 (SCA14) [OMIM: 605361] ( Yamashita et al, 2000 ; Brkanac et al, 2002 ) ( Rossi et al, 2014 ) is an autosomal dominant disorder characterized by progressive cerebellar degeneration, dysarthria, and nystagmus. Symptoms, such as axial myoclonus ( Yamashita et al, 2000 ), cognitive impairment ( Wedding et al, 2013 ; Bolton and Lacy, 2019 ), tremors ( Koht et al, 2012 ), and impaired sensibility ( Klebe et al, 2005 ; Koht et al, 2012 ), may also be observed. Furthermore, Parkinson’s disease ( Sailer et al, 2012 ; Chen et al, 2022 ), which is characterized by muscle rigidity and tremors, has also been reported in some family pedigrees.…”