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Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.
NPJ Parkinsons Dis
October 2024
Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.
The Parkinson's Families Project is a UK-wide study aimed at identifying genetic variation associated with familial and early-onset Parkinson's disease (PD). We recruited individuals with a clinical diagnosis of PD and age at motor symptom onset ≤45 years and/or a family history of PD in up to third-degree relatives. Where possible, we also recruited affected and unaffected relatives.
View Article and Find Full Text PDFProof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.
Int J Mol Sci
October 2024
Medical Genetics, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder characterized by the predisposition to develop tumors such as malignant peripheral nerve sheath tumors (MPNSTs) which represents the primary cause of death for NF1-affected patients. Regardless of the high incidence and mortality, the molecular mechanisms underneath MPNST growth and metastatic progression remain poorly understood. In this proof-of-concept study, we performed somatic whole-exome sequencing (WES) to profile the genomic alterations in four samples from a patient with NF1-associated MPNST, consisting of a benign plexiform neurofibroma, a primary MPNST, and metastases from lung and skin tissues.
View Article and Find Full Text PDFCoexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver-McFarlane Syndromes.
Int J Mol Sci
May 2024
Department of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland.
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and retinal pigment epithelial atrophy, leading to severe visual impairment or blindness. RP can be classified as nonsyndromic or syndromic with complex clinical phenotypes. Three unrelated Polish probands affected with retinitis pigmentosa coexisting with cerebellar ataxia were recruited for this study.
View Article and Find Full Text PDFNeuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Brain
June 2024
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Article Synopsis
- * A systematic review identified 36 new pathogenic and 10 likely pathogenic variants through measuring esterase activity, creating a reliable method for classifying variants related to PNPLA6.
- * The study revealed a significant link between NTE activity levels and the presence of specific symptoms like retinopathy and endocrinopathy, supporting the idea that PNPLA6 disorders are a spectrum of related phenotypes based on NTE genotype and activity, setting the stage for future therapies.
Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.
Mol Biol Rep
April 2024
Neuroimmunology Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Background: Boucher Neuhäuser Syndrome (BNS) is a rare disease with autosomal recessive inheritance defined by the classical triad; early-onset ataxia, hypogonadism and chorioretinal dystrophy.
Case Presentation: We present two siblings diagnosed with BNS at midlife, identified with homozygous state of a novel PNPLA6 missense mutation. One healthy sibling and the mother were heterozygous carriers of the mutation.
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