ArticleNeurogenetics2005
A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia.
Article in Neurogenetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 55 citations in OpenAlex.
- Mechanistic studies of the human NIPA2 transporter.Nature communications · 2026Article
- LncRNA NIPA1-SO confers atherosclerotic protection by suppressing the transmembrane protein NIPA1.Journal of advanced research · 2023Article
- Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia.Annals of clinical and translational neurology · 2023Review
- Hereditary Spastic Paraplegia: An Update.International journal of molecular sciences · 2022Review
- Clinical and Genetic Features of Chinese Patients WithFrontiers in genetics · 2022Article
- A novel de novo NIPA1 missense mutation associated to hereditary spastic paraplegia.Journal of human genetics · 2021Article
- Is NIPA1-associated hereditary spastic paraplegia always 'pure'? Further evidence of motor neurone disease and epilepsy as rare manifestations.Neurogenetics · 2020Article
- Spastic Diplegia in a Haitian Girl with Angelman Syndrome.Journal of pediatric genetics · 2020Article
- Frameshift Variant in Novel Adenosine-A1-Receptor Homolog Associated With Bovine Spastic Syndrome/Late-Onset Bovine Spastic Paresis in Holstein Sires.Frontiers in genetics · 2020Article
- Microduplications at the 15q11.2 BP1-BP2 locus are enriched in patients with anorexia nervosa.Journal of psychiatric research · 2019Article
- Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.Cerebellum (London, England) · 2017Review
- TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation.Acta neuropathologica · 2012Article
- The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1.Molecular and cellular neurosciences · 2011Article
- Genetics of motor neuron disorders: new insights into pathogenic mechanisms.Nature reviews. Genetics · 2009Review
- Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2008Article
- Drosophila spichthyin inhibits BMP signaling and regulates synaptic growth and axonal microtubules.Nature neuroscience · 2007Article
- Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations.Journal of medical genetics · 2006Article
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterised by lower limb spasticity and weakness. Mutations in NIPA1 (Nonimprinted in Prader-Willi/Angelman syndrome 1) have recently been identified as a cause of autosomal dominant pure HSP, with one mutation described in two unrelated families. NIPA1 has no known function but is predicted to possess nine transmembrane domains and may function as a receptor or transporter. Here we present a large British pedigree in which linkage analysis conclusively demonstrates linkage to the NIPA1 locus (maximum multipoint LOD score 4.6). Subsequent mutation analysis identified a novel missense substitution in a highly conserved NIPA1 residue (G106R) which further confirms a causative link between NIPA1 mutation and autosomal dominant hereditary spastic paraplegia.
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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.