Demonstration of Cerebellar Atrophy in Neuroacanthocytosis of 2 Siblings

Katsube, T.; Shimono, T.; Ashikaga, R.; Hosono, Mayu; Kitagaki, H.; Murakami, Tetsuro

doi:10.3174/ajnr.a1282

Cited by 15 publications

(15 citation statements)

References 15 publications

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“…Neuroimaging findings in ChAc typically include progressive and marked atrophy of the caudate and putamen with a predilection for the caudate head . On MRI, there may be an increased T2 signal in the dorsal striatum, and some researchers have observed cerebellar atrophy and white matter changes involving the corpus callosum …”

Section: Movement Disorders With Prominent Cognitive Impairmentmentioning

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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Section: Movement Disorders With Prominent Cognitive Impairmentmentioning

confidence: 99%

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

Walterfang

Warrenburg

2014

Movement Disorders

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“…On MRI there may be increased T2-signal in the dorsal striatum48 and some researchers have observed cerebellar atrophy49–51 and white matter changes involving the corpus callosum 50. We note the cerebellar and changes with special interest, given the potential role of cortico-cerebellar dysfunction in executive cognitive impairment,10 which features prominently in this disease.…”

Section: Neuroacanthocytosesmentioning

confidence: 85%

The Neuropsychiatry of Hyperkinetic Movement Disorders: Insights from Neuroimaging into the Neural Circuit Bases of Dysfunction

Hayhow

Hassan

Looi

et al. 2013

Tremor and Other Hyperkinetic Movements

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“…Cerebellar atrophy has been very rarely described in ChAc2 and diffuse cerebellar atrophy has probably never been described in the literature.…”

Section: Descriptionmentioning

confidence: 99%

“…The imaging findings of ChAc consist of bilateral caudate atrophy with or without T2 hyperintensity in putamen 2. Cerebellar atrophy has been very rarely described in ChAc2 and diffuse cerebellar atrophy has probably never been described in the literature.…”

Section: Descriptionmentioning

confidence: 99%