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Article

Clinical spectrum of C9orf72 expansion in a cohort of Huntington's disease phenocopies.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Apr 2018

Martins Joana, Damásio Joana, Mendes Alexandre, Vila-Chã Nuno, Alves José E, Ramos Cristina, Cavaco Sara, Silva João, Alonso Isabel, Magalhães Marina

Abstract excerpt

The expansion in the C9orf72 gene has been recently reported as a genetic cause of Huntington's disease (HD) phenocopies. We aim to assess the frequency of the C9orf72 gene expansion in a Portuguese HD phenocopies cohort. Twenty HD phenotype-like patients without diagnosis were identified in our institutional database. C9orf72 gene expansion was detected using repeat-primed PCR. Clinical files were reviewed to...

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PMID: 29441485
DOI: 10.1007/s10072-018-3268-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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