Cognitive impairment in spinocerebellar ataxia type 8

Lilja, Arja; Hämäläinen, Päivi; Kaitaranta, Elina; R, Rinne

doi:10.1016/j.jns.2005.05.008

Cited by 39 publications

(38 citation statements)

References 41 publications

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“…Again, we think this unlikely, because the motor output in the behavior task was minimal, a single button press across a single joint. Table 3 The clusters activated by the contrast Hits>Early errors between the groups: control group and SCA group Cognitive and executive impairment are prominent in spinocerebellar patients with extracerebellar pathology (spinocerebellar ataxia 1, 2, and 3); however, mild cognitive and executive impairments were observed in both spinocerebellar ataxia 6 and 8-our sample- [60][61][62]. What is interesting is that more than other categories, these patients have trouble in theory of mind tasks, such as recognition and attribution of social and emotional responses [63].…”

Section: Discussionmentioning

confidence: 90%

The Neural Substrate of Predictive Motor Timing in Spinocerebellar Ataxia

et al. 2010

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The neural mechanisms involved in motor timing are subcortical, involving mainly cerebellum and basal ganglia. However, the role played by these structures in predictive motor timing is not well understood. Unlike motor timing, which is often tested using rhythm production tasks, predictive motor timing requires visuo-motor coordination in anticipation of a future event, and it is evident in behaviors such as catching a ball or shooting a moving target. We examined the role of the cerebellum and striatum in predictive motor timing in a target interception task in healthy (n = 12) individuals and in subjects (n = 9) with spinocerebellar ataxia types 6 and 8. The performance of the healthy subjects was better than that of the spinocerebellar ataxia. Successful performance in both groups was associated with increased activity in the cerebellum (right dentate nucleus, left uvula (lobule V), and lobule VI), thalamus, and in several cortical areas. The superior performance in the controls was related to activation in thalamus, putamen (lentiform nucleus) and cerebellum (right dentate nucleus and culmen-lobule IV), which were not activated either in the spinocerebellar subjects or within a subgroup of controls who performed poorly. Both the cerebellum and the basal ganglia are necessary for the predictive motor timing. The degeneration of the cerebellum associated with spinocerebellar types 6 and 8 appears to lead to quantitative rather than qualitative deficits in temporal processing. The lack of any areas with greater activity in the spinocerebellar group than in controls suggests that limited functional reorganization occurs in this condition.

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Section: Discussionmentioning

confidence: 90%

The Neural Substrate of Predictive Motor Timing in Spinocerebellar Ataxia

et al. 2010

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“…Additionally, connections between the cerebellum and brainstem have also been implicated in non-motor cerebellar functions. Lesion studies of patients with cerebellar damage have demonstrated similar findings to functional imaging studies in healthy adults and have found that the cerebellum likely modulates many cognitive processes including working [10, 11, 12], visuospatial [11, 13, 14], and episodic memory [11, 15]. …”

Section: Introductionmentioning

confidence: 82%

Psychosis in Spinocerebellar Ataxias: a Case Series and Study of Tyrosine Hydroxylase in Substantia Nigra

et al. 2017

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Spinocerebellar ataxias are a genetically heterogeneous group of degenerative diseases typically characterized by progressive ataxia and to various degrees, neuropathy, amyotrophy, and ocular abnormalities. There is increasing evidence for non-motor manifestations associated with cerebellar syndromes including cognitive and psychiatric features. We studied a retrospective clinical case series of eight subjects with spinocerebellar ataxias (SCAs) 2, 3, 7, and 17, all displaying features of psychosis, and also measured tyrosine hydroxylase (TH) staining of the substantia nigra (SN) at autopsy, among four of the subjects. We hypothesized that increased dopamine production in the SN may underlie the pathophysiology of psychosis in SCAs, given evidence of increased dopamine production in the SN in schizophrenia, as measured by TH staining. We analyzed differences in TH staining between the SCA psychosis cohort (n = 4), a heterogeneous ataxic cohort without psychosis (n = 22), and non-diseased age- and sex-matched control group (n = 12). SCA subjects with psychosis did not differ significantly in TH staining versus ataxic cases without psychosis. There was, however, increased TH staining in the ataxic cohort with and without psychosis (n = 26), compared to non-diseased controls (n = 12). Psychotic features were similar across subjects, with the presence of delusions, paranoia, and auditory hallucinations. Our findings are preliminary because of small numbers of subjects and variable neuropathology; however, they suggest that psychosis is a clinical feature of SCAs and may be under-recognized. While the underlying pathophysiology remains to be fully established, it may be related to extra-cerebellar pathology, including a possible propensity for increased dopamine activity in the SN.

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“…The kindred has a worldwide distribution, especially in Europe. A dysexecutive syndrome has been a reported feature as has a significant occurrence of psychiatric diagnoses [57,58]. …”

Section: Clinical Description Of Subformsmentioning

confidence: 99%

Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics

Whaley

Fujioka

Wszołek

2011

Orphanet J Rare Dis

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Type I autosomal dominant cerebellar ataxia (ADCA) is a type of spinocerebellar ataxia (SCA) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement. The global prevalence of this disease is not known. The most common type I ADCA is SCA3 followed by SCA2, SCA1, and SCA8, in descending order. Founder effects no doubt contribute to the variable prevalence between populations. Onset is usually in adulthood but cases of presentation in childhood have been reported. Clinical features vary depending on the SCA subtype but by definition include ataxia associated with other neurological manifestations. The clinical spectrum ranges from pure cerebellar signs to constellations including spinal cord and peripheral nerve disease, cognitive impairment, cerebellar or supranuclear ophthalmologic signs, psychiatric problems, and seizures. Cerebellar ataxia can affect virtually any body part causing movement abnormalities. Gait, truncal, and limb ataxia are often the most obvious cerebellar findings though nystagmus, saccadic abnormalities, and dysarthria are usually associated. To date, 21 subtypes have been identified: SCA1-SCA4, SCA8, SCA10, SCA12-SCA14, SCA15/16, SCA17-SCA23, SCA25, SCA27, SCA28 and dentatorubral pallidoluysian atrophy (DRPLA). Type I ADCA can be further divided based on the proposed pathogenetic mechanism into 3 subclasses: subclass 1 includes type I ADCA caused by CAG repeat expansions such as SCA1-SCA3, SCA17, and DRPLA, subclass 2 includes trinucleotide repeat expansions that fall outside of the protein-coding regions of the disease gene including SCA8, SCA10 and SCA12. Subclass 3 contains disorders caused by specific gene deletions, missense mutation, and nonsense mutation and includes SCA13, SCA14, SCA15/16, SCA27 and SCA28. Diagnosis is based on clinical history, physical examination, genetic molecular testing, and exclusion of other diseases. Differential diagnosis is broad and includes secondary ataxias caused by drug or toxic effects, nutritional deficiencies, endocrinopathies, infections and post-infection states, structural abnormalities, paraneoplastic conditions and certain neurodegenerative disorders. Given the autosomal dominant pattern of inheritance, genetic counseling is essential and best performed in specialized genetic clinics. There are currently no known effective treatments to modify disease progression. Care is therefore supportive. Occupational and physical therapy for gait dysfunction and speech therapy for dysarthria is essential. Prognosis is variable depending on the type of ADCA and even among kindreds.

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Cognitive impairment in spinocerebellar ataxia type 8

Cited by 39 publications

References 41 publications

The Neural Substrate of Predictive Motor Timing in Spinocerebellar Ataxia

The Neural Substrate of Predictive Motor Timing in Spinocerebellar Ataxia

Psychosis in Spinocerebellar Ataxias: a Case Series and Study of Tyrosine Hydroxylase in Substantia Nigra

Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics

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