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Article

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

Cerebellum (London, England) - 1 Jun 2018

Teive Hélio Afonso Ghizoni, Camargo Carlos Henrique F, Sato Mario Teruo, Shiokawa Naoye, Boguszewski Cesar L, Raskin Salmo, Buck Cassandra, Seminara Stephanie B, Munhoz Renato Puppi

Abstract excerpt

Autosomal recessive cerebellar ataxias (ARCAs) represent a heterogeneous group of inherited disorders. The association of early-onset cerebellar ataxia with hypogonadotropic hypogonadism is related to two syndromes, known as Gordon Holmes syndrome (GHS-ataxia and pyramidal signs with hypogonadotropic hypogonadism) and Boucher-Neuhäuser syndrome (BNS-ataxia with chorioretinal dystrophy). Mutations in the PNPLA6...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29248984
DOI: 10.1007/s12311-017-0909-y
PMCID: PMC5970027

Genes

PNPLA6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

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Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias.PMID 29248984Read ↗

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 ↗

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

Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.Semantic proximity Read ↗

Gordon Holmes syndrome caused by two novel mutations in the PNPLA6 gene.Semantic proximity Read ↗

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 ↗

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

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

A novel mutation in RNF216 gene in an Indian case with Gordon Holmes syndrome.Semantic proximity Read ↗

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

Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.Semantic proximity Read ↗

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