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Article

Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly.

Neurology - 11 May 2004

Aguglia U, Gambardella A, Breedveld G J, Oliveri R L, Le Piane E, Messina D, Quattrone A, Heutink P

Abstract excerpt

A large three-generation family with autosomal dominant type 1 porencephaly from southern Italy was studied. A high rate of miscarriages was observed. Of the nine affected individuals, four displayed a severe phenotype, and five had slight pyramidal signs or mild cognitive abnormalities. The MRI study disclosed unilateral porencephalic cyst, or colpocephaly. A genome-wide screen resulted in suggestive evidence...

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Identifiers

PMID: 15136694
DOI: 10.1212/01.wnl.0000123113.46672.68

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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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