Does Anticipation Happen in Familial ALS/FTD?

Patients with familial amyotrophic lateral sclerosis/frontotemporal dementia show evidence of modest acceleration of disease onset in subsequent generations in Belgium.

More than 20 repeat expansion conditions have been discovered to date and differ in the number of repeated nucleotides, the genetic locus of the expansion (exon, intron, or untranslated regions), and the size of the expansion that produces a disease phenotype. Another variable is anticipation: the presence of progressively earlier onset and greater severity of symptoms in successive generations, related to instability of the repeats and to transmission of greater repeat numbers. Anticipation is a well-established phenomenon in some but not all repeat disorders.

Researchers have now explored the question of anticipation in successive generations of carriers of the C9orf72 hexanucleotide (G₄C₂) expansion, linked to familial amyotrophic lateral…

Reviewing Author

Hristelina Ilieva, MD

Does Anticipation Happen in Familial ALS/FTD?

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Reviewing Author