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Article

Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhäuser syndrome due to PNPLA6 mutations.

Journal of neurology, neurosurgery, and psychiatry - 1 May 2015

Synofzik Matthis, Kernstock Christoph, Haack Tobias B, Schöls Ludger

Abstract excerpt

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24790214
DOI: 10.1136/jnnp-2014-307793

Genes

PNPLA6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhäuser syndrome due to PNPLA6 mutations.PMID 24790214Read ↗

Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene.Semantic proximity Read ↗

Boucher-Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature.Semantic proximity Read ↗

Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.Semantic proximity Read ↗

Boucher Neuhäuser Syndrome - A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel mutations in PNPLA6.Semantic proximity Read ↗

Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia.Semantic proximity Read ↗

A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome.Semantic proximity Read ↗

A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia.Semantic proximity Read ↗

Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias.Semantic proximity Read ↗

Cerebellar ataxia, hypogonadism and chorioretinopathy: molecular analysis of an Italian family.Semantic proximity Read ↗

Chorea in the elderly with mutation positive polycythemia vera: a case report.Semantic proximity Read ↗

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