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Behavioral Variant Frontotemporal Dementia With C9orf72 Intermediate Repeat Expansion : A case report.

Sufen Huang1,2, Yuzhang Bei2, Qingxiang Zhang3

  • 1Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.

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A rare case of frontotemporal dementia (FTD) linked to a chromosome 9 open reading frame 72 (C9orf72) gene repeat expansion of 49 units provides evidence for intermediate-length alleles.

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behavioral variant dementiacase reportfrontotemporal dementiaintermediaterepeat expansion

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Area of Science:

  • Genetics
  • Neuroscience
  • Neurology

Background:

  • Hexanucleotide repeat expansions in the C9orf72 gene are the leading genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS).
  • The exact number of repeats defining a pathogenic expansion, particularly in the intermediate range (30 to >60 repeats), remains debated.
  • This uncertainty impacts genetic diagnosis and counseling for patients and families.

Purpose of the Study:

  • To report a rare case of behavioral variant frontotemporal dementia (bvFTD) associated with an intermediate-length C9orf72 repeat expansion.
  • To contribute clinical evidence to the ongoing discussion regarding the pathogenicity of C9orf72 alleles within the intermediate repeat range.
  • To highlight the clinical presentation and neuroimaging findings in a patient with this specific genetic profile.

Main Methods:

  • Case report of a patient diagnosed with bvFTD.
  • Genetic analysis to identify and quantify the C9orf72 repeat expansion.
  • Neuropsychological assessment to evaluate cognitive and behavioral deficits.
  • Neuroimaging studies (MRI/PET) to assess brain structure and function.

Main Results:

  • The patient presented with a C9orf72 repeat expansion of 49 units, falling within the intermediate-length range.
  • Clinical manifestations included progressive neuropsychiatric decline, emotional blunting, and memory impairment.
  • Neuroimaging revealed bilateral temporal and hippocampal atrophy and reduced glucose metabolism in specific brain regions.

Conclusions:

  • This case provides critical clinical data supporting the potential pathogenicity of intermediate-length C9orf72 repeat expansions.
  • The findings underscore the importance of considering intermediate alleles in the genetic diagnosis of FTD and ALS.
  • Further research is warranted to definitively establish the pathogenic threshold for C9orf72 repeat expansions.