ArticleCerebellum (London, England)2018
Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias.
Article in Cerebellum (London, England), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.Brain : a journal of neurology · 2024Pooled it
- Clinical and Genetic Profile of Gordon-Holmes Syndrome: A Review of Published Cases : Original Article.Cerebellum (London, England) · 2026Review
- Outer retinal tubulation associated with photoreceptor degeneration.Progress in retinal and eye research · 2026Review
- Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes.Cerebellum (London, England) · 2024Review
- Autosomal Recessive Cerebellar Ataxias: New Acronyms, Old Eponyms, and the Butterfly Life Cycle.Movement disorders clinical practice · 2023Article
- PNPLA6/NTE, an Evolutionary Conserved Phospholipase Linked to a Group of Complex Human Diseases.Metabolites · 2022Review
- Identification of Novel Compound Heterozygous Variants of theFrontiers in genetics · 2022Article
- Autosomal recessive adult onset ataxia.Journal of neurology · 2022Article
- Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement.Frontiers in neurology · 2022Article
- Article
- Movement Disorders Associated with Hypogonadism.Movement disorders clinical practice · 2021Review
- NGS in Hereditary Ataxia: When Rare Becomes Frequent.International journal of molecular sciences · 2021Article
- Novel variants in PNPLA6 causing syndromic retinal dystrophy.Experimental eye research · 2021Article
- Multifaceted and Age-Dependent Phenotypes Associated With BiallelicFrontiers in neurology · 2021Article
- Lipid-metabolizing serine hydrolases in the mammalian central nervous system: endocannabinoids and beyond.Biochimica et biophysica acta. Molecular and cell biology of lipids · 2019Review
- PNPLA6-related syndromic retinal dystrophy: A genetically confirmed case of Boucher-Neuhauser syndrome from the Kingdom of Bahrain.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyArticle
Corrections and comments
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Authors and funding
9 authors at 6 institutions in 4 countries.
Funding
Abstract
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 gene have been identified as the cause of hereditary spastic paraplegia and complex forms of ataxia associated with retinal and endocrine manifestations. We reported two Brazilian patients with sporadic, progressive cerebellar ataxia, associated with hypogonadotropic hypogonadism, in whom the GHS and BNS were confirmed by the demonstration of compound heterozygote mutations in the PNPLA6 gene. Genetic analysis of the patient 1 revealed compound heterozygous mutations, one allele in exon 34 and the other allele in exon 29. Genetic exam of the patient 2 also demonstrated compound heterozygous mutations. Three were novel mutations. The missense mutation c.3373G> A, found in the BNS patient, was previously related to Oliver-McFarlane syndrome. These different mutations in this gene suggest a complex phenotype associated disease spectrum.
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Registered trials
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