ArticleJournal of neurology2014
Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia.
Article in Journal of neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.Brain : a journal of neurology · 2024Pooled it
- A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome.Molecular medicine reports · 2018Trial
- Splenial corpus callosum lesions in Boucher-Neuhäuser syndrome: a case series and comprehensive literature review with exploratory analysis of disease duration.Neuroradiology · 2026Article
- Article
- Case Report: Novel compound heterozygous mutations inFrontiers in genetics · 2025Article
- Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.Molecular biology reports · 2024Article
- Article
- Lipid Dyshomeostasis and Inherited Cerebellar Ataxia.Molecular neurobiology · 2022Review
- 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
- Article
- Movement Disorders Associated with Hypogonadism.Movement disorders clinical practice · 2021Review
- Morpho-Functional Consequences ofCells · 2021Article
- Novel variants in PNPLA6 causing syndromic retinal dystrophy.Experimental eye research · 2021Article
- Multifaceted and Age-Dependent Phenotypes Associated With BiallelicFrontiers in neurology · 2021Article
- ER responses play a key role in Swiss-Cheese/Neuropathy Target Esterase-associated neurodegeneration.Neurobiology of disease · 2019Article
- Gordon Holmes syndrome due to compound heterozygosity of two neweNeurologicalSci · 2019Article
- Disease-Associated PNPLA6 Mutations Maintain Partial Functions When Analyzed inFrontiers in neuroscience · 2019Article
- A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γ.American journal of medical genetics. Part A · 2018Article
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
Abstract
PNPLA6 mutations, known to be associated with the development of motor neuron phenotypes, have recently been identified in families with Boucher-Neuhäuser syndrome. Boucher-Neuhäuser is a rare autosomal recessive syndrome characterized by the co-occurrence of cerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy. Gait ataxia in Boucher-Neuhäuser usually manifests before early adulthood, although onset in the third or fourth decade has also been reported. However, given the recent identification of PNPLA6 mutations as the cause of this condition, the determining factors of age of symptom onset still need to be established. Here, we have identified a sporadic Boucher-Neuhäuser case with late-onset gait ataxia and relatively milder retinal changes due to compound heterozygous PNPLA6 mutations. Compound heterozygosity was confirmed by cloning and sequencing the patient's genomic DNA from coding exons 26-29. Furthermore, both mutations (one novel and one known) fell in the phospholipase esterase domain, where most pathogenic mutations seem to cluster. Taken together, we herein confirm PNPLA6 mutations as the leading cause of Boucher-Neuhäuser syndrome and suggest inquiring about a history of hypogonadism or visual changes in patients presenting with late-onset gait ataxia. We also advocate for neuroophthalmologic evaluation in suspected cases.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.