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Article

Copy number variations in SPAST and ATL1 are rare among Brazilians.

Clinical genetics - 1 May 2023

Fussiger Helena, Pereira Bruna Letícia da Silva, Padilha Janice Pacheco Dias, Donis Karina Carvalho, Siebert Marina, Brusius-Facchin Ana Carolina, Baldo Guilherme, Saute Jonas Alex Morales

Abstract excerpt

Copy number variations (CNV) may represent a significant proportion of SPG4 and SPG3A diagnosis, the most frequent autosomal dominant subtypes of hereditary spastic paraplegias (HSP). We aimed to assess the frequency of CNVs in SPAST and ATL1 and to update the molecular epidemiology of HSP families in southern Brazil. A cohort study that included 95 Brazilian index cases with clinical suspicion of HSP was...

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PMID: 36537231
DOI: 10.1111/cge.14280

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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