Cognition is only minimally impaired in Spinocerebellar ataxia type 14 (SCA14): a neuropsychological study of ten Norwegian subjects compared to intrafamilial controls and population norm

Wedding, Iselin Marie; Koht, Jeanette; Dietrichs, Espen; Landrø, Nils Inge; Tallaksen, Chantal

doi:10.1186/1471-2377-13-186

Cited by 16 publications

(13 citation statements)

References 41 publications

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“…In addition, cognitive impairment is only rarely reported in SCA14, and if cognition is affected, only minimal severity is reported, which was mirrored in our series. However, a formal neuropsychology assessment was conducted in symptomatic cases only limiting our ability to characterize this further.…”

Section: Discussionsupporting

confidence: 78%

Genotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14

et al. 2018

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Background: Spinocerebellar ataxia type 14 is a rare form of autosomal dominant cerebellar ataxia caused by mutations in protein kinase Cγ gene. Clinically, it presents with a slowly progressive, mainly pure cerebellar ataxia. Methods: Using next generation sequencing, we screened 194 families with autosomal dominant cerebellar ataxia and normal polyglutamine repeats. In‐depth phenotyping was performed using validated clinical rating scales neuroimaging and electrophysiological investigations. Results: We identified 25 individuals from 13 families carrying pathogenic mutations in protein kinase Cγ gene. A total of 10 unique protein kinase Cγ gene mutations have been confirmed of which 5 are novel and 5 were previously described. Our data suggest that the age at onset is highly variable; disease course is slowly progressive and rarely associated with severe disability. However, one third of patients presented with a complex ataxia comprising severe focal and/or task‐induced dystonia, peripheral neuropathy, parkinsonism, myoclonus, and pyramidal syndrome. The most complex phenotype is related to a missense mutation in the catalytic domain in exon 11. Conclusion: We present one of the largest genetically confirmed spinocerebellar ataxia type 14 cohorts contributing novel variants and clinical characterisation. We show that although protein kinase Cγ gene mutations present mainly as slowly progressive pure ataxia, more than a third of cases had a complex phenotype. Overall, our case series extends the phenotype and suggests that protein kinase Cγ gene mutations should be considered in patients with slowly progressive autosomal dominant cerebellar ataxia, particularly when myoclonus, dystonia, or mild cognitive impairment are present in the absence of polyglutamine expansion. © 2018 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.

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Section: Discussionsupporting

confidence: 78%

Genotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14

et al. 2018

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“…Comparison of the four patients in this case series highlights the distinct cognitive profiles associated with various subtypes of SCA, as supported by larger past studies [2, 3, 19–27]. While some heterogeneity exists, there were some notable commonalities as well.…”

Section: Discussionsupporting

confidence: 77%

“…SCA14, the rarest of the four presented subtypes, has received very little attention with regard to the associated cognitive profile. The one case controlled study that has been reported found very little neurocognitive impairment in these patients [27]. Our patient, however, displayed notable deficits in visual memory, processing speed, and speeded phonemic fluency.…”

Section: Discussionmentioning

confidence: 42%

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

Bolton

Lacy

2019

cerebellum ataxias

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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.

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“…Executive dysfunction, however, is common to most of these profiles, consistent with disruption to frontal‐subcortical circuits. In those subtypes with more marked extracerebellar pathology (such as SCA1, 2, and 3), the cognitive deficits are also more pronounced than in those with more pure cerebellar involvement (e.g., SCA6 and late‐onset SCA14 cases) . Cognitive deterioration also parallels disease progression and/or correlates with disease severity, suggesting that these cognitive changes are integral to the disease .…”

Section: Cognitive Impairment Associated With “Primary” Movement Disomentioning

confidence: 99%

“…In those subtypes with more marked extracerebellar pathology (such as SCA1, 2, and 3), the cognitive deficits are also more pronounced than in those with more pure cerebellar involvement (e.g., SCA6 and late-onset SCA14 cases). 24,25 Cognitive deterioration also parallels disease progression and/or correlates with disease severity, suggesting that these cognitive changes are integral to the disease. [26][27][28] Although no studies have explicitly assessed whether these cognitive deficits contribute to the overall burden of disease, it is likely that these impairments are not just subclinical, and difficulties with planning, multitasking, and shifting are recognized by many patients and caregivers as affecting SCA patients' functional impairment.…”

Section: Genetic Ataxiasmentioning

confidence: 99%

Cognitive impairment in “Other” movement disorders: Hidden defects and valuable clues

Walterfang

Warrenburg

2014

Movement Disorders

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There is a group of less-common movement disorders in which a clear cognitive phenotype coexists alongside the motor abnormality, and the recognition of this co-occurrence is essential to diagnose these disorders in an early phase. Examples include chorea-acanthocytosis, Niemann-Pick type C, some dominant ataxias, and pantothotenate kinase-associated neurodegeneration. However, also, in some more-common movement disorders, such as primary dystonia and essential tremor, of which the perception is that these have a more or less pure motor phenotype, cognitive deficits are commonly present, although it is not clear whether these deficits-which may be mild in the more "pure" motor disorders-have a functionally relevant impact. In both scenarios, disruption of relevant frontal-subcortical loops appears to be key, with the striatum and cerebellum as important (but not exclusive) nodes.

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Cognition is only minimally impaired in Spinocerebellar ataxia type 14 (SCA14): a neuropsychological study of ten Norwegian subjects compared to intrafamilial controls and population norm

Cited by 16 publications

References 41 publications

Genotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14

Genotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14

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

Cognitive impairment in “Other” movement disorders: Hidden defects and valuable clues

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