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Updated: May 23, 2026

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Screening for C9ORF72 repeat expansion in FTLD.

Raffaele Ferrari1, Kin Mok, Jorge H Moreno

  • 1Laboratory of Neurogenetics, Department of Internal Medicine, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA.

Neurobiology of Aging
|March 31, 2012
PubMed
Summary

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The C9ORF72 hexanucleotide expansion is linked to frontotemporal lobar degeneration (FTLD) and ALS. This study found the expansion in FTD, FTD-ALS patients, and one control, suggesting broader associations and potential comorbidities like Alzheimer's disease.

Area of Science:

  • Neuroscience
  • Genetics
  • Neurology

Background:

  • Frontotemporal lobar degeneration (FTLD) and Amyotrophic Lateral Sclerosis (ALS) are debilitating neurodegenerative diseases.
  • The C9ORF72 gene is a known genetic factor implicated in some FTD and ALS cases.
  • Understanding the prevalence and clinical associations of genetic mutations is crucial for diagnosis and treatment.

Purpose of the Study:

  • To investigate the prevalence of the C9ORF72 GGGGCC hexanucleotide expansion in a cohort of FTD patients and controls.
  • To identify potential co-occurring mutations and pathological hallmarks in expansion carriers.

Main Methods:

  • Genotyping analysis was performed to detect the C9ORF72 hexanucleotide repeat expansion.
  • Patient and control groups consisted of 53 FTD patients and 174 neurologically normal individuals.

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  • Genetic sequencing and neuropathological examination were utilized for detailed analysis.

    • Main Results:

    • The pathogenic C9ORF72 expansion was detected in 4 out of 53 FTD patients (including bv-FTD and FTD-ALS) and 1 control.
    • Two expansion carriers presented with novel missense mutations in GRN and PSEN-2.
    • One carrier exhibited TDP-43 pathology alongside amyloid plaques and tangles, indicative of comorbid Alzheimer's disease.

    Conclusions:

    • The C9ORF72 hexanucleotide expansion is associated with FTD, ALS, and FTD-ALS.
    • The findings suggest potential co-occurrence of C9ORF72 expansion with other genetic mutations and neuropathologies, including Alzheimer's disease.
    • Replication in larger cohorts is necessary to confirm these novel observations.