Relationship between C9orf72 repeat size and clinical phenotype.

doi:10.1016/j.gde.2017.02.008

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Article

Relationship between C9orf72 repeat size and clinical phenotype.

Current opinion in genetics & development - 1 Jun 2017

Van Mossevelde Sara, van der Zee Julie, Cruts Marc, Van Broeckhoven Christine

Abstract excerpt

Patient carriers of a C9orf72 repeat expansion exhibit remarkable heterogeneous clinical and pathological characteristics suggesting the presence of modifying factors. In accordance with other repeat expansion diseases, repeat length is the prime candidate as a genetic modifier. Observations of earlier onset ages in younger generations of large families suggested a mechanism of disease anticipation. Yet, studies...

Topics

Age of Onset
Amyotrophic Lateral Sclerosis
C9orf72 Protein
DNA Repeat Expansion
Frontotemporal Dementia
Humans
Mosaicism
Nerve Degeneration
Phenotype
Repetitive Sequences, Amino Acid

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Open in PubMed

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PMID: 28319737
DOI: 10.1016/j.gde.2017.02.008

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