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Article

Neuropsychological assessment of Boucher-Neuhäuser syndrome: A case report.

The Clinical neuropsychologist - 1 Nov 2022

Merolla Stefano, Borella Monica, Bassi Francesca, Canonico Francesco, Santilli Ignazio Michele, Grassi Maria Pia

Abstract excerpt

OBJECTIVE: Boucher-Neuhäuser Syndrome (BNS) is a rare autosomal recessive disorder characterized by hypogonadotropic hypogonadism, spinocerebellar ataxia, and chorioretinal syndrome, and associated with a variant in the PNPLA6 gene. Although many reports have mentioned the presence of cognitive impairment, a neuropsychological assessment of a BNS case has never been published. Here, we provide a detailed...

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Identifiers

PMID: 34459356
DOI: 10.1080/13854046.2021.1965219

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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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