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Cognitive Dysfunction in Repeat Expansion Diseases: A Review.

Sizhe Zhang1, Lu Shen1,2,3,4,5, Bin Jiao1,2,3,4,5

  • 1Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.

Frontiers in Aging Neuroscience
|April 28, 2022
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Summary
This summary is machine-generated.

Repeat expansion diseases (REDs) impact cognitive functions differently. This review maps affected cognitive domains across various REDs, aiding differential diagnosis and intervention strategies for these neurological disorders.

Keywords:
C9FTDFXTASHDNIIDSCAscognitive dysfunctionrepeat expansion diseases

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Area of Science:

  • Neuroscience
  • Genetics
  • Neurology

Background:

  • Over 40 repeat expansion diseases (REDs) identified, often affecting the nervous system.
  • Cognitive dysfunction is a common feature, but specific impaired domains vary among REDs.
  • Understanding these cognitive differences is crucial for diagnosis and treatment.

Purpose of the Study:

  • To survey literature on cognitive consequences of specific REDs.
  • To summarize pathogenic genes, epidemiology, and affected cognitive domains.
  • To create a cognitive function landscape for differential diagnosis and intervention.

Main Methods:

  • Literature review of REDs presenting cognitive dysfunction.
  • Analysis of affected cognitive domains, pathogenic genes, and epidemiology.
  • Synthesis of findings to map cognitive profiles of different REDs.

Main Results:

  • Neuronal intranuclear inclusion disease (NIID) affects widespread cognitive domains.
  • C9ORF72-frontotemporal dementia (FTD) impairs executive function, memory, language, and visuospatial skills.
  • Huntington's disease (HD), fragile X-associated tremor/ataxia syndrome (FXTAS), and spinocerebellar ataxias show distinct patterns of cognitive impairment.
  • Other REDs like DM1, PME, FRDA, HDL2, and CANVAS also exhibit cognitive dysfunction.

Conclusions:

  • A cognitive function landscape for REDs can aid differential diagnosis.
  • Identifying specific cognitive deficits may guide non-specific therapeutic interventions.
  • Further research is needed for rare REDs with limited clinical data.