Longitudinal study of cognitive and psychiatric functions in spinocerebellar ataxia types 1 and 2

Fancellu, Roberto; Paridi, D.; Tomasello, Chiara; Panzeri, Marta; Castaldo, Anna; Genitrini, S.; Soliveri, Paola; Girotti, F.

doi:10.1007/s00415-013-7138-1

Cited by 79 publications

(70 citation statements)

References 55 publications

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“…These abnormalities are similar to the cognitive alterations were found in SCA1 (executive dysfunction) and SCA2 and 3 (executive and visuospatial disabilities) [3,4]. This may reflect the disturbance of the cerebellar-prefrontal connection system [33,34] [39,40].…”

Section: Discussionsupporting

confidence: 58%

“…The main neurological symptoms are gait and limb ataxia and dysarthria, accompanied by additional neurological signs, which are variable and often overlapping within the subtypes of the group. The characteristic cognitive abnormalities are executive dysfunction and visuospatial disability in the most common SCAs (SCA1, 2 and 3) [3,4]. The genetic diversity of SCAs comprises trinucleotide repeat expansions (SCA1, 2, 3, 6, 7, 8, 12, 17 and dentatorubral-pallidoluysian atrophy), pentanucleotide repeat expansions (SCA10 and 31), hexanucleotide repeat expansions (SCA36) and conventional mutations (SCA5, 11, 13, 14, 15/16, 18, 19/22, 21, 23, 26, 27, 28, 29, 34, 35, 38 and 40), whereas the responsible gene has not yet been identified in some forms of SCAs (SCA4, 20, 25, 30, 32 and 37) [5].…”

Section: Introductionmentioning

confidence: 99%

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Neurocognitive Characterization of an SCA28 Family Caused by a Novel AFG3L2 Gene Mutation

et al. 2017

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Spinocerebellar ataxia 28 (SCA28) is an extremely rare, autosomal, dominantly inherited, juvenile onset, slowly progressive, gait and limb ataxia with frequent eye movement abnormalities and cerebellar atrophy. The causative gene of SCA28 is AFG3L2, located on the short arm of chromosome 18. In this paper we demonstrate the neurocognitive assessment of 5 affected patients in the first Hungarian SCA28 family. The identified c.2011G>Cheterozygous base pair change is a novel point mutation variation resulting in an already known p.Gly671Arg amino acid change. The previously described 82 SCA28 patients were compared with our patients and we found that the majority of clinical features, including early onset, slow progression, gait and limb ataxia, dysarthria and pyramidal symptoms are similar to the alterations characteristic of other SCA28 patients. Some ophthalmological manifestations, such as ptosis, ophthalmoparesis and slowing of saccades are not present in our patients. Since detailed psychological investigation was not performed previously in SCA28 patients, the following major neuropsychological functions were examined: phonological immediate memory, visuospatial immediate memory, working memory, executive functions, everyday memory functions including semantic memory, visual attention and speed of processing. The results of these assessments demonstrated slightly lower levels of performance in complex working memory, visuospatial memory, semantic memory and executive functions with some variation between subjects. These abnormalities may be the consequence of alterations in the cerebellar-prefrontal connection system.

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Section: Discussionsupporting

confidence: 58%

Section: Introductionmentioning

confidence: 99%

Neurocognitive Characterization of an SCA28 Family Caused by a Novel AFG3L2 Gene Mutation

et al. 2017

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“…Previous resting state functional MRI studies also observed the associations between the lingual gyrus and psychiatric symptoms such as depression, loneliness, and anxiety (Lan et al., 2015; Liu et al., 2015, 2017). Although psychiatric symptoms were not reported in the five included studies, they are common in SCA2 patients (Alves‐Cruzeiro, Mendonca, Pereira, Almeida, & Nobrega, 2016; Fancellu et al., 2013; Schmitz‐Hübsch et al., 2011). Therefore, the lingual gyrus may also play a role in emotional processing.…”

Section: Discussionmentioning

confidence: 99%

Voxel‐based meta‐analysis of gray and white matter volume abnormalities in spinocerebellar ataxia type 2

et al. 2018

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ObjectiveTo identify the consistent findings from the whole‐brain voxel‐based morphometry (VBM) studies on spinocerebellar ataxia type 2 (SCA2).MethodsThe whole‐brain VBM studies comparing SCA2 patients and healthy controls (HCs) were systematically searched in PubMed, Embase databases from January 2000 to June 2017. The coordinates with significant differences in gray matter (GM) and white matter (WM) between SCA2 patients and HCs were extracted separately from each cluster. A meta‐analysis was performed using anisotropic effect size‐based signed differential mapping (AES‐SDM) software.ResultsA total of five studies with 65 SCA2 patients and 124 HCs were included in the GM meta‐analysis. Four of the five studies with 50 SCA2 patients and 109 HCs were included in the WM meta‐analysis. Significant and consistent GM volume reductions were detected in bilateral cerebellar hemispheres, cerebellar vermis, the right fusiform gyrus, the right parahippocampal gyrus, and the right lingual gyrus. The WM volume reductions were observed in bilateral cerebellar hemispheres, cerebellar vermis, middle cerebellar peduncles, pons, and bilateral cortico‐spinal projections. The findings of the study remained largely unchanged in jackknife sensitivity analysis.ConclusionsThe consistent findings from our meta‐analysis showed that GM volume reductions in SCA2 patients were not limited in cerebellum while significant WM volume reductions widely existed in cerebellum and pyramidal system. The findings provide morphological basis for further studies on SCA2.

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“…Cognitive deficits in moderate stage of the disease are broad and concern several domains, including executive function, fluid intelligence, verbal memory, visuo‐spatial abilities 62, 64, 65, 66, 67…”

Section: Cognitionmentioning

confidence: 99%

“…On the other hand, infantile forms that are characterized by larger expansions have marked cognitive impairment. Lack of association between motor dysfunction and cognitive impairment has been reported 43, 67, 69…”

Section: Cognitionmentioning

confidence: 99%

The Multiple Faces of Spinocerebellar Ataxia type 2

Antenora

Rinaldi

Roca

et al. 2017

Ann Clin Transl Neurol

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Spinocerebellar ataxia type 2 (SCA2) is among the most common forms of autosomal dominant ataxias, accounting for 15% of the total families. Occurrence is higher in specific populations such as the Cuban and Southern Italian. The disease is caused by a CAG expansion in ATXN2 gene, leading to abnormal accumulation of the mutant protein, ataxin‐2, in intracellular inclusions. The clinical picture is mainly dominated by cerebellar ataxia, although a number of other neurological signs have been described, ranging from parkinsonism to motor neuron involvement, making the diagnosis frequently challenging for neurologists, particularly when information about the family history is not available. Although the functions of ataxin‐2 have not been completely elucidated, the protein is involved in mRNA processing and control of translation. Recently, it has also been shown that the size of the CAG repeat in normal alleles represents a risk factor for ALS, suggesting that ataxin‐2 plays a fundamental role in maintenance of neuronal homeostasis.

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Longitudinal study of cognitive and psychiatric functions in spinocerebellar ataxia types 1 and 2

Cited by 79 publications

References 55 publications

Neurocognitive Characterization of an SCA28 Family Caused by a Novel AFG3L2 Gene Mutation

Neurocognitive Characterization of an SCA28 Family Caused by a Novel AFG3L2 Gene Mutation

Voxel‐based meta‐analysis of gray and white matter volume abnormalities in spinocerebellar ataxia type 2

The Multiple Faces of Spinocerebellar Ataxia type 2

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